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BI 1: GEN- M DI TRUYN-V QU TRNH T NHN I ADN DNG 1: TNH S NU CA ADN ( HOC CA GEN ) 1)i vi mi mch: Trong AND, 2 mch

b sung nhau nn s nu v chiu di ca 2 mch bng nhau. Mch 1: A1 T1 G1 X1 Mch 2: A1 = T2 ; T1 = A2 ; G1 = X2 ; X1 = G2 T2 A2 X2 G2 2)i vi c 2 mch: S nu mi loi ca AND l s nu loi 2 mch. A = T = A1 + A2 = T1 + T2 = A1 + T1 = A2+ T2 G = X = G1 + G2 = X1 + X2 = G1 + X1 = G2 + X2 %A + %G = 50% = N/2

%A1 + %A2 = %T1 + %T2 = %A = %T 2 %G1 + %G2 = %X1 + % X2 = %G = %X 2 2 +Do mi chu k xon gm 10 cp nu = 20 nu nn ta c: N = 20 x s chu k xon +Mi nu c khi lng l 300 n v cacbon nn ta c: N = khi lng phn t AND 300 DNG 2: TNH CHIU DI Mi mch c N/2 nu, chiu di ca 1 nu l 3,4 A0 . L = N x 3,4 A0 2 1 micromet (m) = 104 A0. 1 micromet = 106nanomet (nm). 1 mm = 103 m = 106 nm = 107 A0 . 1g=1012pg (picrogam)

DNG 3: TNH S LIN KT HIDRO V S LIN KT CNG HA TR 1)S lin kt Hidro: A ca mch ny lin kt vi T ca mch kia bng 2 lin kt hidro. G ca mch ny lin kt vi X ca mch kia bng 3 lin kt hidro. H = 2A + 3G 2)S lin kt cng ha tr: Trong mi mch n, 2 nu k tip ni vi nhau bng mt lin kt ha tr, vy N/2 nu s c s lin kt ha tr l N/2 1 lin kt. S lin kt ha tr gia cc nu trong c 2 mch ca AND l: ( N/2 1 )2 = N 2 Trong mi nu c mt lin kt ha tr axit photphoric vi ng C5H10O4. S lin kt ha tr trong c phn t AND l: N 2 + N = 2N 2 .

DNG 4: TNH S NU T DO CN DNG 1)Qua 1 t nhn i: Atd = Ttd = A = T Gtd = Xtd = G = X 2)Qua nhiu t t nhn i: Tng s AND to thnh:

AND to thnh = 2x

S ADN con c 2 mch hon ton mi: AND con c 2 mch hon ton mi = 2x 2

S nu t do cn dng: Atd = Ttd = A( 2x 1 ) Gtd = Xtd = G( 2x 1 ) Ntd = N( 2x 1 )

DNG 5: TNH S LIN KT CNG HA TR C HNH THNH V PH V 1)Qua 1 t t nhn i: Hph v = HADN Hhnh thnh = 2 x HADN HThnh thnh = 2( N/2 1 )H = ( N 2 )H

2)Qua nhiu t t nhn i: Hb ph v = H( 2x 1 ) HThnh thnh = ( N 2 )( 2x 1 ) DNG 6: TNH THI GIAN T SAO TGt sao = dt N 2 dt l thi gian tip nhn v lin kt 1 nu . TGt sao = N Tc t sao

DNG 7: TNH S CCH M HA CA ARN V S CCH SP T A AMIN TRONG CHUI POLIPEPTIT Cc loi a.amin v cc b ba m ho: C 20 loi a amin thng gp trong cc phn t prtin nh sau : 1) Glixrin : Gly 2) Alanin : Ala 3) Valin : Val 4 ) Lxin : Leu 5) Izolxin : Ile 6 ) Xerin : Ser 7 ) Treonin : Thr 8 ) Xistein : Cys 9) Metionin : Met 10) A. aspartic : Asp 11)Asparagin : Asn 12) A glutamic : Glu 13) Glutamin :Gln 14) Arginin : Arg 15) Lizin : Lys 16) Phenilalanin :Phe 17) Tirozin: Tyr 18) Histidin : His 19) Triptofan : Trp 20) Prlin : pro

Bng b ba mt m U U UUU UUX UUA UUG XUU XUX XUA XUG phe X UXU UXX U X A Ser Leu UXG XXU Leu X X X Pro XXA XXG AXU AXX AXA AXG GXU GXX GXA GXG Thr A UAU Tyr UAX U A A ** U A G ** XAU His XAX XAA XAG Gln AAU AAX AAA AAG GAU GAX GAA GAG Asn Lys Asp Glu G UGU UGX Cys U G A ** U G G Trp XGU XGX XGA Arg XGG AGU AGX AGA AGG GGU GGX GGA GGG Ser Arg Gli U X A G U X A G U X A G U X A G

AUA AUX He AUA A U G * Met GUU GUX Val GUA G U G * Val

Ala

K hiu : * m m u

; ** m kt thc

BI 2+3: QU TRNH SAO M V DCH M-IU HO HOT NG GEN DNG 1: TNH S RIBONUCLEOTIT CA ARN rN = rA + rU + rG + rX = N/2 rN = khi lng phn t ARN 300

DNG 2: TNH CHIU DI V S LIN KT CNG HA TR CA ARN 1)Chiu di: LARN = LADN = N x 3,4 A0 LARN = rN x 3,4 A0 2 2)S lin kt cng ha tr: Trong mi ribonu: rN Gia cc ribonu: rN 1 Trong phn t ARN :

HTARN = 2rN 1

DNG 3: TNH S RIBONUCLEOTIT T DO CN DNG 1)Qua mt ln sao m: rAtd = Tgc ; rUtd = Agc rGtd = Xgc ; rXtd = Ggc 2)Qua nhiu ln sao m: S S phn t ARN = s ln sao m = k rNtd = k.rN rNtd = N 2

rAtd = k.rA = k.Tgc ; rGtd = k.rG = k.Xgc

rUtd = k.rU = k.Agc rXtd = k.rX = k.Ggc

DNG 4: TNH S LIN KT HIDRO V LIN KT CNG HA TR 1)Qua mt ln sao m: Ht = Hhnh thnh = HADN A 2)Qua nhiu ln sao m: Hph v = k.H 1)i vi mi ln sao m: Hhnh thnh = k( rN 1 )

DNG 5: TNH THI GIAN SAO M TGsao m = dt .rN dt l thi gian tip nhn mt ribonucleotit.

TGsao m =

rN Tc sao m

2)i vi nhiu ln sao m: (k ln) TGsao m = TGsao m mt ln + ( k 1 )t t l thi gian chuyn tip gia 2 ln sao m lin tip.

DNG 6: CU TRC PROTEIN 1)S b ba sao m: S b ba sao m = N = rN 2x3 3 2)S b ba c m ha axit amin: S b ba c m ha axit amin = N 1 = rN 2x3 3 3)S axit amin ca phn t Protein: S a.a ca phn t protein = N 2 = rN 2 2x3 3 DNG 7: TNH S AXIT AMIN T DO CN DNG 1)Gii m to thnh 1 phn t Protein: S a.a t do = N 1 = rN 1 2x3 3 S a.a trong chui polipeptit = N 2 = rN 2 2x3 3 k : l s phn t mARN. n : l s Riboxom trt qua. 1

2)Gii m to thnh nhiu phn t Protein: (n ln) Tng s Protein to thnh: P = k.n Tng s a.a t do cung cp:

a.atd =

rN rN 1 = k.n. 1 P. 3 3

Tng s a.a trong cc chui polipeptit hon chnh:

a.aP =

rN 2 P. 3

DNG 8: TNH S PHN T NC S LIN KT PEPTIT S phn t nc gii phng to 1 chui polipeptit: S phn t H2O gii phng = rN 2 3 S lin peptit c to lp = = a.aP - 1

S phn t nc gii phng to nhiu chui polipeptit: H2Ogii


phng

= P. P

Peptit = P. = P( a.aP 1 )

DNG 9: TNH S tARN Nu c x phn t gii m 3 ln s a.a do chng cung cp l 3x. Nu c y phn t gii m 2 ln s a.a do chng cung cp l 2y. Nu c z phn t gii m 1 ln s a.a do chng cung cp l z. Tng s a.a cn dng l: 3x + 2y + z = a.a t do cn dng DNG 10: S CHUYN DCH CA RIBOXOM TRN mARN 1)Vn tc trt ca riboxom trn ARN: Tc gii m = s b ba ca mARN t 2)Thi gian tng hp mt phn t Protein: L thi gian riboxom trt ht chiu di mARN ( t u n n u kia ). 3)Thi gian mi riboxom trt qua ht mARN: t t

t : khong thi gian riboxom pha sau trt chm hn riboxom pha trc. Riboxom 1: t Riboxom 2: t + t Riboxom 3: t + 2 t Riboxom 4: t + 3 t Riboxom n: t + (n 1) t DNG 11: TNH THI GIAN TNG HP CC PHN T PROTEIN 1)Ca mt mARN: Chia lm 2 giai on t=L Thi gian k t lc riboxom th nht tip xc n khi n ri khi mARN. V Thi gian k t riboxom th nht ri khi mARN n khi riboxom cui cng ri khi mARN. t = l t = t = t1 + t2 + t3 + + tn V l l khong cch gia 2 riboxom k tip. Vy thi gian tng hp cc phn t protein l: T = t + t = L + l V V Nu cc riboxom (n) cch u nhau trn mARN, ta c: T = t + t = L + ( n 1 ) l V

2)Ca nhiu mARN thng tin sinh ra t 1 gen c cng s riboxom nht nh trt qua khng tr li: Nu khng k n thi gian chuyn tip gia cc mARN: T = k.t + t k l s phn t mARN.

Nu thi gian chuyn tip gia cc riboxom l t th ta c cng thc: T = k.t + t + ( k 1 )t

DNG 12: TNH S AXIT AMIN T DO CN DNG I VI CC RIBOXOM CN TIP XC VI mARN a.atd = a1 + a2 + + ax x l s riboxom. a1 ,a2 : s a.a trong chui polipeptit ca Riboxom 1, Riboxom 2, .

ax a3 a2 a1 Nu cc riboxom cch u nhau th ta c: S hng u a1 = s a.a ca R1. Cng sai d: s a.a Riboxom sau km hn Riboxom trc. S hng ca dy x: s Riboxom ang trt trn mARN.

Sx = [2a1 + ( x 1 )d]

BI 4: T BIN GEN DNG 1: THAY I LIN KT HIR -Mt : + Mt 1 ( A T ) : S lin kt hir gim 2 . + Mt 1 ( G X ) : S lin kt hir gim 3 . -Thm : + Thm 1 ( A T ) : S lin kt hir tng2 . +Thm1 ( G X ) : S lin kt hir tng 3 . -Thay : + Thay 1 ( A T ) bng 1 (G X) : S lin kt hir tng 1 . + Thay 1 ( G X ) bng 1 (A T) : S lin kt hir gim1 . c) 5 BU: - gy t bin thay th gp A T bng gp G X - s : A T A 5 BU 5-BU G G X d) EMS: - gy t bin thay th G X bng cp T A hoc X G - s : G X EMS G T (X) EMS T A hoc X G DNG 2 : LIN QUAN N CHIU DI GEN a) Chiu di khng thay i :Thay s cp nucleotit bng nhau . b) Chiu di thay i : -Mt : Gen t bin ngn hn gen ban u . -Thm : Gen t bin di hn gen ban u -Thay cp nucleotit khng bng nhau. DNG 3 : LIN QUAN N PHN T PROTIN : a)Mt hoc thm : Phn t protein s b thay i t axitamin c nucleotit b mt hoc thm . b)Thay th : -Nu b ba t bin v b ba ban u cng m ha 1 axitamin th phn t protein s khng thay i . - Nu b ba t bin v b ba ban u m ha aa khc nhau th phn t protein c 1 aa thay i . DNG 4: PHN LOI T BIN IM + t bin Cm: xy ra bazo th 3 ca 1 b ba nhng aa khng b thay i + t bin dch khung: Xen mt Nu khung s c thay i + t bin V ngha: - to b ba quy nh m kt thc + t bin nhm ngha- thay i b ba v lm xut hin b ba mi

BI 5: NHIM SC TH DNG 1: TNH S T BO CON TO THNH T mt t bo ban u: A = 2x T nhiu t bo ban u: a1 t bo qua x1 t phn bo s t bo con l a12x1. a2 t bo qua x2 t phn bo s t bo con l a22x2. Tng s t bo con sinh ra : A = a12x1 + a22x2 +

DNG 2: TNH S NST TNG NG VI NGUYN LIU C CUNG CP TRONG QU TRNH T NHN I CA NST Tng s NST sau cng trong tt c cc t bo con: 2n.2x Tng s NST tng ng vi NLCC khi 1 t bo 2n qua x t nguyn phn l: NST = 2n.2x 2n = 2n(2x - 1 ) S NST cha hon ton nguyn liu mi: NSTmi = 2n.2x 2.2n = 2n(2x 2 ) + S NST MTrng NB CC th h cui cng: 2n.(2k-1)

DNG 3 TNH THI GIAN NGUYN PHN 1)Thi gian ca mt chu k nguyn phn: L thi gian ca 5 giai on, c th c tnh t u k trung gian n ht k cui. 2)Thi gian qua cc t nguyn phn:

DNG 4 TNH S GIAO T HNH THNH V S HP T TO RA 1)To giao t( c XY, ci XX ): T bo sinh tinh qua gim phn cho 4 tinh trng gm 2 loi X v Y. S tinh trng hnh thnh = s t bo sinh tinh x 4. 9

S tinh trng X hnh thnh = s tinh trng Y hnh thnh. T bo sinh trng qua gim phn ch cho 1 t bo trng loi X v 3 th nh hng (sau ny s bin mt ). S trng hnh thnh = s t bo trng x 1. S th nh hng = s t bo trng x 3. 2)To hp t: Mt tinh trng loi X kt hp vi trng to thnh mt hp t XX, mt tinh trng Y kt hp vi trng to thnh hp t XY. S hp t XX = s tinh trng X th tinh. S hp t XY = s tinh trng Y th tinh. 3)Hiu sut thu tinh (H): H th tinh ca tinh trng = S tinh trng th tinh X 100% Tng s tinh trng hnh thnh S trng th tinh X 100% Tng s trng hnh thnh

H th tinh ca trng =

DNG 5: Xc nh tn s xut hin cc t hp gen khc nhau v ngun gc NST a. Tng qut: gii cc bi ton v ngun gc NST i vi loi sinh sn hu tnh, GV cn phi gii thch cho HS hiu c bn cht ca cp NST tng ng: mt c ngun gc t b, mt c ngun gc t m. Trong gim phn to giao t th: - Mi NST trong cp tng ng phn li v mt giao t nn to 2 loi giao t c ngun gc khc nhau ( b hoc m ). - Cc cp NST c s PLL, t hp t do . Nu gi n l s cp NST ca t bo th: * S giao t khc nhau v ngun gc NST c to nn = 2n . S t hp cc loi giao t qua th tinh = 2n . 2n = 4n V mi giao t ch mang n NST t n cp tng ng, c th nhn mi bn t b hoc m t nht l 0 NST v nhiu nht l n NST nn: * S giao t mang a NST ca b (hoc m) = Cna Xc sut mt giao t mang a NST t b (hoc m) = Cna / 2n . - S t hp gen c a NST t ng (b) ni (giao t mang a NST ca b) v b NST t ng (b) ngoi (giao t mang b NST ca m) = Cna . Cnb Xc sut ca mt t hp gen c mang a NST t ng (b) ni v b NST t ng (b) ngoi = Cna . Cnb / 4n b. VD B NST lng bi ca ngi 2n = 46. - C bao nhiu trng hp giao t c mang 5 NST t b? - Xc sut mt giao t mang 5 NST t m l bao nhiu? - Kh nng mt ngi mang 1 NST ca ng ni v 21 NST t b ngoi l bao nhiu? Gii * S trng hp giao t c mang 5 NST t b: = Cna = C235 * Xc sut mt giao t mang 5 NST t m: = Cna / 2n = C235 / 223 . * Kh nng mt ngi mang 1 NST ca ng ni v 21 NST t b ngoi: = Cna . Cnb / 4n = C231 . C2321 / 423 = 11.(23)2 / 423 10

DNG 6: T L GIAO T V S KIU T HP NST KHC NHAU -S loi giao t hnh thnh : 2n + x x (xn): S cp NST c trao i on . -T l mi loi giao t : 1/2n . hoc 1/2n + x -S loi hp t = S loi giao t . S loi giao t . - S kiu t hp NST khc nhau: 3n BI 6: T BIN CU TRC NHIM SC TH III-t bin cu trc NST : C 4 dng 1.Mt on : A B C D E F G H t bin A D E F G H 2.Lp on : A B C D E F G H t bin ABCBC DEFGH

3.o on : A B C D E F G H t bin A D C B E F G H 4.Chuyn on : a)Chuyn on trong cng 1 NST : ABCDEFGH t bin AB EFCDGH b)Chuyn on gia 2 NST khc nhau : -Chuyn on tng h : ABCDEFGH t bin MNOPQR -Chuyn on khng tng h : ABCDEFGH t bin MNOPQR

MNOCDEFGH ABPQR CDEFGH ABMNOPQR

VD ngi: Mt on cp NST s 21 hoc 22 gy bnh bch cu c tnh 3 NST s 13 15 : st mi, tha ngn, cht yu 3 NST s16 -18 : ngn tr di hn ngn gia, tai thp, hm b

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BI 7 : T BIN S LNG NST DNG 1 : TH LCH BI : a/ Cc dng : -Th khuyt (khng) : 2n 2 ; Th khuyt kp : 2n 2 - 2 . -Th 1: 2n 1 ; Th 1 kp : 2n 1 1 . -Th 3: 2n + 1 ; Th 3 kp : 2n + 1+ 1 . -Th 4: 2n + 2 ; Th 4 kp : 2n + 2 + 2 . (n: S cp NST) . DNG T BIN S TRNG HP TNG NG VI CC CP NST 1 S dng lch bi n khc nhau Cn = n S dng lch bi kp khc nhau Cn2 = n(n 1)/2! C a th lch bi khc nhau Ana = n!/(n a)! + VD B NST lng bi ca loi = 24. Xc nh: - C bao nhiu trng hp th 3 c th xy ra? - C bao nhiu trng hp th 1 kp c th xy ra? - C bao nhiu trng hp ng thi xy ra c 3 t bin; th 0, th 1 v th 3? Gii * S trng hp th 3 c th xy ra: 2n = 24 n = 12 Trng hp ny n gin, lch bi c th xy ra mi cp NST nn HS d dng xc nh s trng hp = n = 12. Tuy nhin GV nn lu cng thc tng qut gip cc em gii quyt c nhng bi tp phc tp hn . Thc cht: s trng hp th 3 = Cn1 = n = 12 * S trng hp th 1 kp c th xy ra: HS phi hiu c th 1 kp tc ng thi trong t bo c 2 th 1. Thc cht: s trng hp th 1 kp = Cn2 = n(n 1)/2 = 12.11/2 = 66 * S trng hp ng thi xy ra c 3 t bin: th 0, th 1 v th 3: GV cn phn tch HS thy rng: - Vi th lch bi th nht s c n trng hp tng ng vi n cp NST. - Vi th lch bi th hai s c n 1 trng hp tng ng vi n 1 cp NST cn li. - Vi th lch bi th ba s c n 2 trng hp tng ng vi n 2 cp NST cn li. Kt qu = n(n 1)(n 2) = 12.11.10 =1320. Tuy nhin cn lu cng thc tng qut cho HS. -Thc cht: s trng hp ng thi xy ra 3 th lch bi = Ana = n!/(n a)! = 12!/(12 3)! = 12!/9! = 12.11.10 = 1320 b/ Lch bi trn NST thng ca ngi: Hi chng Down: - Cp NST th 21 ca ngi bnh Down c 3 NST (2n+1; 47), ca ngi bnh thng l 2 NST.Do 1 trng mang 2 NST 21 x 1 t/trng bnh thng) l nam (n), c ngn, gy rng v dt khe mt xch, lng mi ngn v tha cc ngn tay ngn, c th chm pht trin si n, v sinh. - S tng t l tr mi sinh mc bnh Down theo tui ngi m 12

Ph n khng nn sinh con khi tui ngoi 40. E V khi tui ngi m cng cao, cc t bo b lo ha c ch phn ly NST b ri lon c/ Th d bi cp NST gii tnh ca ngi: 1. Hi chng XXX (2n+1;47) - Cp NST s 23 c 3NST X - N, bung trng v d con khng pht trin, ri lon kinh nguyt, kh c con 2. H.C Tcn XO (2n-1; 45): - Cp NST s 23 ch c 1NST X - N, ln, c ngn, khng c kinh nguyt, si n. 3. H.C Klinefelter XXY: (2n+1;47) : - Cp NST 23 c 3 NST l XXY - Nam, b bnh m mu, thn cao, chn tay di, si n v thng v sinh + Cch vit giao t th ba 2n+1 (d nhm vi 3n) - Thc vt: C th 2n+1 hoa c ch cho ht phn n c kh nng th tinh (giao t n+1 bt th) Hoa ci cho c giao t n v n+1 c kh nng th tinh - VD1: KG aaa v Aaa hoa ci theo s sau

- Hoa c: aaa ch chi giao t a; Aaa: cho 1/3A+2/3 c kh nng th tinh (t s trn) DNG 2: TH A BI a. Cc dng -a bi chn : T bi (4n) ,Lc bi (6n) , Bt bi (8n) ... -a bi l : Tam bi (3n) , Ng bi (5n) , Tht bi (7n) ... b.Cch vit giao t : + i vi kiu gen AAAa: c th ny to hai loi giao t vi t l.

+ i vi kiu gen Aaaa: c th ny to 3 loi giao t vi t l.

* T bi (4n) : AAAA 100% AA AAAa 1/2AA : 1/2Aa AAaa 1/6AA :1/6Aa : 1/6aa Aaaa 1/2Aa : aa aaaa 100 % aa *Tam bi (3n) : AAA AA :1/2 A AAa 1/6AA: 2/6 A : 2/6 Aa : 1/6 Aaa 1/6A: 2/6 Aa : 2/6 a : 1/6aa aaa aa : a DNG 3: BI TON NGC CHO T L NG HP LN=> KG P +1/6 aaaa = 1/6 loi giao t aa x 100% loi giao t aa.

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BI 11+12 QUY LUT PHN LY V PHN LY C LP DNG 1: PHNG PHP CHUNG GII BI TP 1.Trng hp 1 : bi cho y cc kiu hnh i sau p dng Ql phn ly c lp: + Bc 1 : tm tri ln v quy c gen - Tri ln: 3 phng php: * Do u bi cho * F1 ng tnh (100%) KH no , th l KH tri * Xt t l tnh trng: KH no i vi 3 l tri VD Cao/thp=3/1 - Quy c gen: Tri ch ci In hoa, ln ch ci thng + Bc 2 : Xt s di truyn ca tng cp tnh trng i sau : 3/1 nh lut 2 ca Menen ==> Kiu gen ca c th em lai : Aa x Aa . 1/2/1 tri khng hon ton ==> Kiu gen ca c th em lai : Aa x Aa . 1/1 l kt qu ca php lai phn tch ==> Kiu gen ca c th em lai : Aa x aa . + Bc 3 : Xt s di truyn cc cp tnh trng i sau : nhn t l KH cc php lai ring bc 2 nu trng vi t l KH ca u bi=> tun theo quy lut Phn ly c lp + Bc 4 : Vit s lai . 2. Trng hp 2 : bi ch cho 1 loi kiu hnh i sau : a) Lai 2 cp tnh trng : S gp mt trong cc t l sau : -2 tnh trng ln : 6,25 % = 1/16 . - 1 tri , 1 ln : 18,75 % = 3/16 . b) Lai 3 cp tnh trng : S gp mt trong cc t l sau : -3 tnh trng ln : 1,5625 % = 1/64 . -2 tnh trng ln , 1 tnh trng tri : 4,6875 % = 3/64 . -1 tnh trng ln , 2 tnh trng tri : 14,0625 % = 9/64 . DNG 2: TNH S LOI V TM THNH PHN GEN CA GIAO T 1)S loi giao t: Khng ty thuc vo s cp gen trong KG m ty thuc vo s cp gen d hp. Trong : KG ca c th gm 1 cp gen d hp s sinh ra 21 loi giao t. KG ca c th gm 2 cp gen d hp s sinh ra 22 loi giao t. KG ca c th gm 3 cp gen d hp s sinh ra 23 loi giao t. S loi giao t ca c th c KG gm n cp gen d hp = 2n t l tng ng. 2)Thnh phn gen ca giao t: S dng s phn nhnh Auerbac qua cc v d sau: V d 1: AaBbDd A a B b B b D d D D D d D d ABD ABd AbD V d 2: AaBbDDEeFF A Abd aBD aBd a 14 abD abd

B D E F ABDEF e F ABDeF E F AbDEF

b D e F AbDeF E F aBDEF

B D e F aBDeF E F abDEF

b D e F abDeF

DNG 3: TNH S KIU T HP KIU GEN KIU HNH V CC T L PHN LI I CON 1)Kiu t hp: S kiu t hp = s giao t c x s giao t ci Ch : Khi bit s kiu t hp bit s loi giao t c, giao t ci bit s cp gen d hp trong kiu gen ca cha hoc m. 2)S loi v t l phn li v KG, KH: T l KG chung ca nhiu cp gen bng cc t l KG ring r ca mi cp tnh trng nhn vi nhau. S KH tnh trng chung bng s KH ring ca mi cp tnh trng nhn vi nhau. V d: A ht vng, B ht trn, D thn cao. P: AabbDd x AaBbdd. Cp KG S lng KH S lng Aa x Aa 1AA:2Aa:1aa 3 3 vng : 1 xanh 2 bb x Bb 1Bb:1bb 2 1 trn : 1 nhn 2 Dd x dd 1Dd:1dd 2 1 cao : 1 thp 2 S KG chung = ( 1AA:2Aa:1aa)(1Bb:1bb)(1Dd:1dd) = 3.2.2 = 12. S KH chung = (3 vng : 1 xanh)(1 trn : 1 nhn)(1 cao : 1 thp) = 2.2.2 = 8. VD Xt 5 locut gen phn ly c lp trn NST thng, mi locut c hai alen. Tnh s kiu gen khc nhau trong qun th thuc cc trng hp sau y: a) S kiu gen ng hp 1 cp gen b) S kiu gen ng hp 2 cp gen c) S kiu gen ng hp 3 cp gen d) S kiu gen ng hp 4 cp gen e) S kiu gen ng hp 5 cp gen f) Tng s kiu gen khc nhau Cch gii: a) S kiu gen ng hp 1 cp gen = 21 .C51 = 2 x 5 = 10 b) S kiu gen ng hp 2 cp gen = 22 .C52 = 40 c) S kiu gen ng hp 3 cp gen = 23 .C53 = 80 d) S kiu gen ng hp 4 cp gen = 24 .C54 = 80 e) S kiu gen ng hp 5 cp gen = 25 .C55 = 32 Tng s kiu gen khc nhau = 35 = 243 DNG 4: TM KIU GEN CA B M 1)Kiu gen ring ca tng loi tnh trng: Ta xt ring kt qu i con F1 ca tng loi tnh trng. a)F1 ng tnh: Nu P c KH khc nhau => P : AA x aa. Nu P c cng KH, F1 l tri => P : AA x AA hoc AA x Aa Nu P khng nu KH v F1 l tri th 1 P mang tnh trng tri AA, P cn li c th l AA, Aa hoc aa. b)F1 phn tnh c nu t l: 15

*F1 phn tnh t l 3:1 Nu tri hon ton: => P : Aa x Aa Nu tri khng hon ton th t l F1 l 2:1:1. Nu c gen gy cht trng thi ng hp th t l F1 l 2:1. *F1 phn tnh t l 1:1 y l kt qu php lai phn tch => P : Aa x aa. c)F1 phn tnh khng r t l: Da vo c th mang tnh trng ln F1. aa => P u cha gen ln a, phi hp vi KH P ta suy ra KG ca P. 2)Kiu gen chung ca nhiu loi tnh trng: a)Trong php lai khng phi l php lai phn tch: Ta kt hp kt qu lai v KG ring ca tng loi tnh trng vi nhau. V d: Cho hai cy cha r KG v KH lai vi nhau thu c F1 : 3/8 cy trn, 3/8 cy bu dc, 1/8 cy vng trn, 1/8 cy vng bu dc. Tm hiu 2 cy thuc th h P. Gii Ta xt ring tng cp tnh trng: +Mu sc: = 3 +3 = 3 : 1 vng => theo quy lut phn li. => P : Aa x Aa. Vng 1+1 +Hnh dng: Trn = 3 + 1 = 1 Trn : 1 Bu dc =>lai phn tch. => P : Bb x bb. Bu dc 3+1 Xt chung: Kt hp kt qu v KG ring ca mi loi tnh trng trn ta c KG ca P : AaBb x Aabb. b)Trong php lai phn tch: Khng xt ring tng tnh trng m phi da vo kt qu php lai xc nh t l v thnh phn gen ca mi loi giao t sinh ra => KG ca c th . V d: Thc hin php lai phn tch 1 cy thu c kt qu 25% cy trn, 25% cy bu dc. Xc nh KG ca cy . Gii Kt qu F1 chng t cy ni trn cho 4 loi giao t t l bng nhau l AB, Ab, aB, ab. Vy KG cy l : AaBb. Tm t l phn tch v KH th h con i vi loi tnh trng t xc nh quy lut di truyn chi phi. + 3:1 l quy lut di truyn phn tch tri ln hon ton. + 1:2:1 l quy lut di truyn phn tch tri khng hon ton (xut hin tnh trng trung gian do gen nm trn NST thng hoc gii tnh. + 1:1 hoc 2:1 t l ca gen gy cht. . 1.1.2. Khi lai 2 hay nhiu cp tnh trng: + Tm t l phn tch v kiu hnh th h con i vi mi loi tnh trng. + Nhn t l KH ring r ca loi tnh trng ny vi t l KH ring ca loi tnh trng kia. Nu thy kt qu tnh c ph hp vi kt qu php lai th c th kt lun 2 cp gen quy nh 2 loi tnh trng nm trn 2 cp NST khc nhau, di truyn theo nh lut phn li c lp ca Menden (tr t l 1:1 nhn vi nhau). V d: Cho lai hai th c chua: qu -thn cao vi qu -thn thp thu c 37.5% qu thn cao: 37.5% qu -thn thp: 12.5% qu vng-thn cao: 12.5% qu vng-thn thp. Bit rng mi tnh trng do 1 gen quy nh. Gii: + Xt ring tng tnh trng th h con: 16

( 37,5% + 37,5% ) : ( 12,5% + 12,5% ) vng = 3 : 1 vng ( 37,5% + 12,5% ) cao : ( 37,5 % + 12,5% ) thp = 1 cao : 1 thp + Nhn 2 t l ny ( 3 : 1 vng ) ( 1 cao : 1 thp ) = 3 -cao : 3 -thp : 1 vng-cao : 1 vng-thp, ph hp vi php lai trong bi. Vy 2 cp gen quy nh 2 tnh trng nm trn 2 cp NST khc nhau. F1 F2 S kiu t S kiu S loi T l kiu S loi T l kiu Kiu gen hp giao giao t kiu gen gen kiu hnh hnh t Lai 1 tnh Aa 21 21 x 21 31 (1:2:1)1 21 (3:1)1 2 2 2 2 2 2 Lai 2 tnh AaBb 2 2 x2 3 (1:2:1) 2 (3:1)2 Lai 3 tnh AaBbCc 23 23 x 23 33 (1:2:1)3 23 (3:1)3 ............... ............... .............. .............. .............. ............... .............. ............... n n n Lai n tnh AaBbCc... 2 2 x2 3n (1:2:1)n 2n (3:1)n Tng qut hn, nu mt cy d hp v n cp allen giao phn vi cy d hp v m cp allen th ta c: + Cy d hp v n cp allen c 2n loi giao t + Cy d hp v m cp allen c 2m loi giao t Do => Tng s hp t = 2n x 2m = 2n+m

3 - T l cy c kiu hnh tri = 4

k +m

1 1 1 - T l th ng hp ton tri = * = 2 2 2
- T l th ng hp ton ln = * =

n+ m

1 2

1 2

1 2

n+ m

DNG 5: Tm s kiu gen ca mt c th v s kiu giao phi:


Mt c th c n cp gen nm trn n cp NST tng ng, trong c k cp gen d hp v m=n-k cp gen ng hp. S kiu gen c th c ca c th tnh theo cng thc:
n m A = C n k 2 n k = Cn 2 m

Trong : A l s kiu gen c th c ca c th n l s cp gen k l s cp gen d hp m l s cp gen ng hp V d: Trong c th c 4 cp gen nm trn 4 cp NST tng ng, c th b c 3 cp gen d hp, 1 cp gen ng hp. cn m th ngc li. C bao nhiu kiu giao phi c th xy ra? A. 64 B.16 C.256 Gii: CCH 1: Gii theo cch lit k cc kiu gen c th c ca c th b m sau nhn li vi nhau: + Xt c th b: c 3 cp gen d hp, 1 ng hp => cc kiu gen c th c: AaBbCcDD AaBbCcdd AaBbCCDd AaBbccDd AaBBCcDd AabbCcDd AABbCcDd aaBbCcDd Vy c tt c l 8 trng hp c th xy ra + Xt c th m: c 1 cp d hp, 3 cp ng hp=> cc kiu gen c th c: 17 D.32

AaBBCCDD AabbCCDD AaBBCCdd AabbCCdd AaBBccDD AabbccDD AaBBccdd Aabbccdd Nu ta gi nh Aa l cp gen d hp cn 3 cp gen cn li ng hp th ta lit k c 8 kiu gen, sau ta thay i vai tr d hp cho 3 cp gen cn li. Lc , s kiu gen c th c ca c th m l: 8 . 4 = 32 Suy ra, s kiu giao phi l: 8 . 32 = 256 chn p n C CCH 2: p dng cng thc tnh: S kiu gen c th c ca c th b l:
1 A = C4 21 =

4! 21 = 4 2 = 8 ( 4 1)!.1!

S kiu gen c th c ca c th m l:
3 B = C4 23 =

4! 23 = 4 8 = 32 ( 4 3)!.3!

Suy ra, s kiu giao phi l: 8 . 32 = 256 chn p n C BI 13: TNG TC GEN 1. Cc dng: + 9:3:3:1 hoc 9:6:1 hoc 9:7 l tnh trng di truyn theo tng tc b tr (b sung). + 12:3:1 hoc 13:3 l tnh trng di truyn theo quy lut tng tc t ch tri. + 9:3:4 l tng tc t ch do gen ln. + 15:1 l tng tc cng gp kiu khng tch ly cc gen tri 2. Tng tc gia cc gen khng alen: Mi kiu tng tc c 1 t l KH tiu biu da theo bin dng ca (3:1)2 nh sau: 2.1. Cc kiu tng tc gen: 2.1.1. Tng tc b tr c 3 t l KH: 9:3:3:1; 9:6:1; 9:7. 2.1.1.1. Tng tc b tr gen tri hnh thnh 4 KH: 9:3:3:1 A-B- A-bb aaB- aabb thuc t l: 9:3:3:1 2.1.1.2. Tng tc b tr gen tri hnh thnh 3 KH: 9:6:1 A-B- (A-bb = aaB-) aabb thuc t l 9:6:1 2.1.1.3. Tng tc b tr gen tri hnh thnh 2 KH: 9:7 A-B- (A-bb = aaB- = aabb) thuc t l 9:7 2.1.2. Tng tc t ch c 3 t l KH: 9:3:4; 12:3:1; 13:3 2.1.2.1. Tng tc t ch gen tri hnh thnh 3 KH: 12:3:1 (A-B- = A-bb) aaB- aabb thuc t l 12:3:1 2.1.2.2. Tng tc t ch gen tri hnh thnh 2 KH: 13:3 (A-B- = A-bb = aabb) aaB- thuc t l 13:3 2.1.2.3. Tng tc t ch gen ln hnh thnh 3 KH: 9:3:4 A-B- aaB- (A-bb = aabb) thuc t l 9:3:4 2.1.3. Tc ng cng gp (tch ly) hnh thnh 2 KH: 15:1 (A-B- = A-bb = aaB-) aabb Tng qut n cp gen tc ng cng gp => t l KH theo h s mi s hng trong khai trin ca nh thc Newton (A+a)n. => Tng tc b tr km theo xut hin tnh trng mi 18

Tng tc t ch ngn cn tc dng ca cc gen khng alen. Tng tc cng gp mi gen gp phn nh nhau vo s pht trin. 2.2. Dng ton thun: + Cho bit kiu tng tc tm t l phn li i con V d : nga s c mt ca 2 gen tri A v B cng kiu gen qui nh lng xm, gen A c kh nng nh ch hot ng ca gen B nn gen B cho lng mu en khi khng ng cng vi gen A trong kiu gen. Nga mang 2 cp gen ng hp ln cho kiu hnh lng hung. Cc gen phn li c lp trong qu trnh di truyn. Tnh trng mu lng nga l kt qu ca hin tng no? A. tc ng cng gp B. Tri khng hon ton C. Tc ng c ch D. Tc ng b tr

Gii: Theo gen A c kh nng nh ch hot ng ca gen B, gen B ch biu hn kiu hnh khi khng ng cng vi gen A trong cng 1 kiu gen. Hay ni cch khc l gen A t ch hot ng ca gen tri B Suy ra, Tnh trng mu lng nga l kt qu ca hin tng tng tc t ch => chn p n: C + Cho bit kiu gen (kiu hnh) ca b m tm t l phn li v kiu gen v kiu hnh i con. V d1: Lai hai dng b thun chng qu trn c F1 ton qu dt; F2 gm 271 qu dt : 179 qu trn : 28 qu di. S di truyn hnh dng qu tun theo quy lut di truyn no? A. Tng tc t ch B. Tng tc cng gp C. Tri khng hon ton D. Tng tc b tr Gii: Xt t l KH i con l: 271 qu dt : 179 qu trn : 28 qu di 9 qu dt : 6 qu trn : 1 qu di Quy lut di truyn chi phi l: Tng tc b tr => Chn p n D Ch : i vi cc bi ton dng ny, ta coi s nh nht nh 1 n v, ri chia cc s ln hn vi n V d2: Cho lai hai dng vt thun chng lng vng vi lng xanh, c F1 ton mu hoa thin l (xanh-vng).F2 gm 9/16 mu thin l : 3/16 lng vng : 3/16 lng xanh : 1/16 lng trng. Tnh trng ny di truyn theo quy lut: A. Phn li c lp C.Tri khng hon ton B. Tng tc gen D. Lin kt gen Gii: T l phn tnh v KH th h F2 l: 9:3:3:1 M y l kt qu ca php lai ca hai c th v mt cp tnh trng tng phn . Nn suy ra tnh trng ny di truyn theo quy lut tng tc gen Chn p n B 2.3.Dng ton nghch: Thng da vo kt qu phn tnh th h lai suy ra s kiu t hp giao t v s loi b m => s cp gen tng tc. Sau khi xc nh c s cp gen tng tc, ng thi xc nh c kiu gen ca b m v suy ra s lai c th c ca php lai thy t l KG thuc dng no, i chiu vi kiu hnh ca bi d on kiu tng tc. Thng th tng t l chn th h con bao gi cng l mt s chn bi n l tch ca mt s chn vi mt s nguyn dng khc khi thc hin php nhn xc sut trong qun th. T , suy ra s loi giao t ca b m.

19

+Khi lai F1 x F1 to ra F2 c 16 kiu t hp nh: 9:3:3:1; 9:6:1; 9:7; 12:3:1; 13:3, 9:3:4; 15:1. (16 = 4*4 => P gim phn cho 4 loi giao t) + Khi lai F1 vi c th khc to ra F2 c 8 kiu t hp nh: 3:3:1:1; 4:3:1; 3:3:2; 5:3; 6:1:1; 7:1. (8 = 4*2 => mt bn P cho 4 loi giao t, mt bn P cho 2 loi giao t) + Khi lai phn tch F1 to ra F2 c 4 kiu t hp nh: 3:1; 1:2:1; 1:1:1:1. (4 = 4*1 => mt bn P cho 4 loi giao t, mt bn P cho 1 loi giao t) V d 1: Khi lai cy hoa thun chng vi cy hoa trng thun chng, F 1 thu c 100% hoa . Cho lai F1 vi cy hoa trng thun chng trn, F2 thu c 3 hoa trng : 1 hoa . S di truyn tnh trng trn tun theo quy lut no? Gii: Pt/c, F1 thu c 100% hoa => tnh trng hoa tri hon ton so vi hoa trng ( theo L ng tnh ca Menden). M tnh trng hoa trng l tnh trng do gen ln quy nh nn hoa trng ch cho 1 loi giao t. Trong khi F2= 3+1= 4 kiu t hp, vy con lai F1 phi cho 4 loi giao t => F1 d hp 2 cp gen (AaBb), lc KG ca hoa trng thun chng l aabb, kiu gen ca cy hoa thun chng l AABB. S lai: Pt/c: F1: F1 x Pt/c(hoa trng): F2: 1AaBb AaBb hoa 1Aabb AABB hoa x AaBb hoa x 1aaBb aabb hoa trng 1aabb aabb hoa trng

M kt qu kiu hnh ca bi l 3 hoa trng: 1hoa . Ta xc nh c trn KG aabb quy nh tnh trng hoa trng, AaBb quy nh tnh trng hoa . T ta c th kt lun 2 KG cn li l Aabb v aaBb quy nh tnh trng hoa trng. Kt lun s di truyn tnh trng trn tun theo quy lut tng tc gen, kiu tng tc b tr gen tri. V d 2: u thm, s c mt ca 2 gen tri A, B trong cng kiu gen qui nh mu hoa , cc t hp gen khc ch c 1 trong 2 loi gen tri trn, cng nh kiu gen ng hp ln s cho kiu hnh hoa mu trng. Cho bit cc gen phn li c lp trong qu trnh di truyn. lai 2 ging u hoa trng thun chng, F1 thu c ton hoa mu . Cho F1 giao phn vi hoa trng thu c F2 phn tnh theo t l 37.5% : 62,5% trng. Kiu gen hoa trng em lai vi F1 l: A. Aabb hoc aaBb C. aaBb hoc AABb B. Aabb hoc AaBB D. AaBB hoc AABb Gii: F2 phn tnh c t l: 37.5% : 62,5% trng = 3 : 5 trng = 8 t hp = 4 giao t x 2 giao t. Theo gi thuyt th nhng cy hoa trng c th c l mt trong cc kiu gen sau: Aabb aaBB aaBb aabb Trong , Kiu gen AAbb, aaBB, aabb s gim phn cho 1 loi giao t Kiu gen Aabb, aaBb gim phn cho 2 loi giao t Vy ch c KG Aabb, aaBb l tha mn, khi lai vi cy F1 cho ra 8 t hp.

AAbb

20

Do cy em lai s cho 2 loi giao t. nn cy em lai vi F1 s c kiu gen l: Aabb hoc aaBb. => Chn p n A V d 3: Lai 2 dng b thun chng qu trn, thu c F1 ton qu dt; cho F1 t th phn F2 thu c 271 qu dt : 179 qu trn : 28 qu di. Kiu gen ca b m l: A. Aabb x aaBB C. AaBb x AaBb B. AaBB x Aabb D. AABB x aabb Gii: Xt F2 c 271 qu dt : 179 qu trn : 28 qu di = 9 qu dt : 6 qu trn : 1 qu di =>F2 c 9+6+1 = 16 t hp = 4 giao t * 4 giao t Suy ra F1 d hp 2 cp gen : AaBb, c th b m thun chng v hai cp gen. Quy c: A-B- : qu dt A-bb v aaB-: qu trn Aabb : qu di Vy kiu gen b m thun chng l: Aabb x aaBB => chn p n A V d 4: Ng, tnh trng kch thc ca thn do 3 cp alen (A1a1, A2a2, A3a3) quy nh. Mi gen ln lm cho cy cao thm 10cm, chiu cao cy thp nht 80cm. Nu F1 ng lot xut hin kiu hnh Ng cao 110cm. Kiu gen ca P l: A. A1A1A2A2A3A3 x a1a1a2a2a3a3 C. A1A1a2a2A3A3 x a1a1A2A2a3a3 B.A1A1A2A2a3a3 x a1a1a2a2A3A3 D.1 trong 4 trng hp ni trn.

Gii: Theo bi suy ra, cy c chiu cao thp nht c kiu gen l ng hp tri A1A1A2A2A3A3. Mi gen ln lm cy cao thm 10cm 110 = 80+10+10+10 Suy ra F1 xut hin 3 gen ln hay d hp t v 3 cp gen A1a1A2a2A3a3 By gi, da vo d kin bi cho: + Php lai: A1A1A2A2A3A3 x a1a1a2a2a3a3 => A1a1A2a2A3a3 + Php lai: A1A1A2A2a3a3 x a1a1a2a2A3A3 => A1a1A2a2A3a3 + Php lai: A1A1a2a2A3A3 x a1a1A2A2a3a3 => A1a1A2a2A3a3 => chn p n ng l p n D 2.4.Tm li: Khi xt s di truyn ca 1 tnh trng, iu gip chng ta nhn bit tnh trng c di truyn theo quy lut tng tc ca 2 gen khng alen l: + Tnh trng c phn li KH th h sau theo t l 9:3:3:1 hay bin i ca t l ny. + Tnh trng c phn li KH th h sau theo t l 3:3:1:1 hay bin i ca t l ny. + Kt qu lai phn tch xut hin t l KH 1:1:1:1 hay bin i ca t l ny. BI 14: DI TRUYN LIN KT GEN V HON V GEN A/ DI TRUYN LIN KT GEN HON TON DNG 1 : NHM NGHIM KG DA VO KIU HNH Lai 2 tnh : S xut hin t l ca lai 1 tnh . - 3 :1 == > Kiu gen ca c th em lai : AB/ab X AB/ab . - 1 :2 :1 == > Kiu gen ca c th em lai : Ab/aB X Ab/aB, Ab/aB x AB/ab - 1 :1 == > Kiu gen ca c th em lai : nu #P AB/ab X ab/ab hoc nu P Ab/aB X ab/ab . - 1 :1 :1 :1=> Ab/ab x aB/ab 21

DNG 2 : S LOI GIAO T V T L GIAO T - vi x l s cp NST tng ng mang gen => s loi giao t = 2x VD: AB/ab => x=1 ; s loi giao t = 21 - vi a (ax) s cp NST tng ng cha cc gen ng hp=> s loi giao t = 2x-a VD: Aa bd/bd c x=2 v a = 1=> 2 2-1=2 loi giao t - T l giao t ca KG tch t l giao t tng KG VD: Ab DE GH C x=3 => s loi giao t= 23=8 aB de gh T l: aB DE gh = x x =12,5% hoc Ab De GH = x 0x = 0% DNG 3: S KIU GEN V KIU HNH I CON= TCH TNG CP RING R

B/ DI TRUYN LIN KT GEN KHNG HON TON (HON V GEN) 1.Cch nhn dng : -Cu trc ca NST thay i trong gim phn . -L qu trnh lai 2 hay nhiu tnh , t l phn tnh chung ca cc cp tnh trng khng ph hp vi php nhn xc sut Nhng xut hin y cc loi kiu hnh nh phn li c lp . 2.Cch gii : -Bc 1 : Qui c . -Bc 2 : Xt tng cp tnh trng -Bc 3 : Xt c 2 cp tnh trng -Bc 4 : Xc nh kiu gen ca c th em lai v tn s hon v gen : a)Lai phn tch : -Tn s hon v gen bng tng % cc c th chim t l thp . -Nu i sau xut hin kiu hnh ging b m chim t l cao == > KG : AB/ab X ab/ab . -Nu i sau xut hin kiu hnh ging b m chim t l thp == > KG : Ab/aB X ab/ab . b)Hon v gen xy ra 1 bn : -Nu % ab < 25 % == > y l giao t hon v . +Tn s hon v gen : f % = 2 . % ab +Kiu gen : Ab/aB X Ab/aB . -Nu % ab > 25 % == > y l giao t lin kt . +Tn s hon v gen : f % = 100 % 2 . % ab +Kiu gen : AB/ab X AB/ab . c)Hon v gen xy ra 2 bn : (% ab)2 = % kiu hnh ln -Nu % ab < 25 % == > y l giao t hon v . +Tn s hon v gen : f % = 2 . % ab +Kiu gen : Ab/aB X Ab/aB . % ab . 50% = % kiu hnh ln .

-Nu % ab > 25 % == > y l giao t lin kt . +Tn s hon v gen : f % =100% - 2 . % ab +Kiu gen : AB/ab X AB/ab . d)Hon v gen xy ra 2 bn nhng bi ch cho 1 kiu hnh (1 tri , 1 ln ) : 22

Gi x l % ca giao t Ab == > %Ab = %aB = x% . %AB = %ab = 50% - x% . Ta c x2 - 2x(50% - x%) = kiu hnh (1 tri , 1 ln ). -Nu x < 25% == >%Ab = %aB (y l giao t hon v) +Tn s hon v gen : f % = 2 . % ab +Kiu gen : AB/ab X AB/ab . -Nu x > 25% == > %Ab = %aB (y l giao t lin kt ) +Tn s hon v gen : f % = 100 % - 2 . % ab +Kiu gen : Ab/aB X Ab/aB . - Bc 5 : Vit s lai . DNG 27 TNH S LOI V THNH PHN GEN GIAO T 1)Cc gen lin kt hon ton: a) Trn mt cp NST ( mt nhm gen ) Cc cp gen ng hp t: => Mt loi giao t. V d: Ab => 1 loa giao t Ab. Ab Nu c 1 cp gen d hp t tr ln: => Hai loi giao t t l tng ng. V d: ABd => ABd = abd abd b) Trn nhiu cp NST ( nhiu nhm gen ) nu mi nhm gen u c ti thiu 1 cp d hp. S loi giao t = 2n vi n l s nhm gen ( s cp NST )

2)Cc gen lin kt nhau khng hon ton: Mi nhm gen phi cha 2 cp gen d hp tr ln mi pht sinh giao t mang t hp gen cho ( giao t hon v gen ) trong qu trnh gim phn. S loi giao t : 22 = 4 loi t l khng bng nhau. 2 loi giao t bnh thng mang gen lin kt, t l mi loi giao t ny > 25%. 2 loi giao t HVG mang t hp gen cho nhau do 2 gen tng ng i ch, t l mi loi giao t ny < 25%. DNG 28 TN S TRAO I CHO V KHONG CCH TNG I GIA 2 GEN TRN MT NST 1)Tn s trao i cho tn s hon v gen ( P ): Tn s trao i cho gia 2 gen trn cng NST bng tng t l 2 loi giao t mang gen hon v. Tn s HVG < 25%. Trong trng hp c bit, cc t bo sinh dc s khai u xy ra trao i cho ging nhau => tn s HVG = 50%. T l mi loi giao t lin kt = 100% f = 1 f 2 2 T l mi loi giao t HVG = f 2 2)Khong cch tng i gia cc gen trn cng 1 NST: Tn s HVG th hin khong cch tng i gia 2 gen : Hai gen cng xa nhau th tn s HVG cng ln v ngc li. Da vo tn s HVG => khong cch gia cc gen => v tr tng i trong cc gen lin kt. Quy c 1CM ( centimorgan ) = 1% HVG. 23

3)Trong php lai phn tch: Tn s HVG = S c th hnh thnh do HVG x 100% Tng s c th nghin cu HON V GEN 1. c im: - Cc gen cng nm trn 1 NST v nu d hp 2 cp gen s cho 4 loi giao t vi t l khc nhau v khc t l 9: 3: 3: 1. trong 2 giao t lin kt c t l ln v 2 giao t hon v c t l nh - Tu loi m hon v xy ra theo gii tnh c ( bm tm) gii ci ( rui gim) hay c 2 gii ( c chua, ngi) 2. ngha: - Lm tng xut hin bin d t hp - Nh c HVG m cc gen c li c dp cng t hp trn 1 NST qui nh cc nhm tinh strng c li - Nh c HVG lm tng tnh a dng phong ph ca giao t, hp t, kg -> tng tnh a dng cho loi v c ngha quan trng trong qu trnh chn ging v tin ho 3. Bi tp: Tn s hon v gen( f ) : L t l %cc loi giao t hon v tnh trn tng s giao t c sinh ra V f 50% f - t l giao t hon v = 2 1- f - t l giao t lin kt =( ) 2 3.1: Qu trnh gim phn xy ra hon v gen gia a v A vi f = 40% v gia D v d vi f = 20% Xc nh s loi giao t , thnh phn cc loi giao t , t l cc loi giao t trong cc trng hp sau: Ab a. 4 giao t: 2 giao t hv AB = ab = f / 2 = 40% / 2 = 20% aB 2 giao t lin kt Ab = aB = (1 f ) / 2 = 30% ABe b. 4 kiu giao t: 2 giao t hv AbE = aBe = f / 2 = 40% / 2 = 20% abE 2 giao t lin kt ABe = abE = (1 f ) / 2 = 30% BD c. Aa 8 kiu giao t: giao t hv A bD = AbD = aBd = abD = f / 4= 20% / 4 = 5% bd giao t lin kt A BD = A bd = a BD = a bd =( 1- 20% )/ 4 = 20% Ab De Ab d. 16 giao t: hv cp cho 2 giao t HV : AB = ab = 20% aB dE aB 2 giao t LK: Ab = aB = 30% De hv cp cho 2 giao t HV : DE = de = 40% dE 2 giao t LK: De = dE = 10% T hp c 16 loi giao t: AB DE = 20% . 40% = 8% AB de = 20% . 40% = 8% AB dE = 20% . 10% = 2 % Cc giao t khc tnh tng t. Nu 2 cp gen cng nm trn 1 cp NST tng ng th: x 1 x 1 V + = = 50%.Do tnh t l giao t lin kt ta ly 50% tr cho loi giao t hon v v 2 2 2 ngc li. - Nu c nhiu cp NST tng ng mang gen ta dng php nhn xc xut tnh t l giao t chung hoc t l tng loi giao t. 3.2.Xc nh kt qu ca php lai: 24

Cho A: qu trn, a: qu di, B: ht c , b: ht trong. Tn s hon v l 40%. AB Ab Php lai : x ab ab a. S kiu t hp giao t: 4 x 2 = 8 giao t Ab 1 1 b. Loi giao t xut hin F1 vi t l: = ( 20% x ) + ( x 30% ) = 25% ab 2 2 3.3. Xc nh qui lut di truyn: V d 1: : Cho lai gia la cy cao ht trn vi cy thp ht di thu c F1 ng lot cy cao ht trn. Cho F1 giao phi vi nhau th F2 c 4 kiu hnh theo t l: 592 cao, trn: 158 cao , di: 163 thp , trn: 89 thp , di.Bit mi gen qui nh 1 tnh trng a. Tm qui lut di truyn b. Xc nh t l phn li kiu gen v kiu hnh f2. Gii: a. F1 ng tnh -> cao trn l tri so vi thp di.v d hp 2 cp gen. - Nu 2 tnh trng PLL th F2 xut hin 4 kiu hnh vi t l 9:3:3:1 ( khc vi d bi) - Nu 2 tnh trng lin kt gen th F2 xut hin t l kiu hnh 3:1 hay 1:2:1 ( khc vi t l u bi ) Theo bi ra F 2 t l 59: 16: 16: 9 9:3:3:1. Vy bi tun theo qui lut hon v gen. AB ab b. lp s lai P: x AB ab AB F1 : 100% cao trn ab ab M F 2 tnh trng cy thp di l tnh trng ln nn kiu hnh = 9% = (30% giao t c ab x 30% ab giao t ci ab) -> Tn s hon v ca F1 = 100% - ( 30% x 2 ) = 40% -> giao t hon v c t l 20% v giao t lin kt 30% lp s lai -> t l phn li KH: 59% cao trn: 16% cao di: 16% thp trn : 9% thp di V d 2: Cho P thun chng khc nhau 2 cp gen F1 xut hin cy chn sm qu trng.Cho F1 t th F2 thu c 4 kiu hnh vi 4700 cy. Trong cy chn mun qu xanh c 375 cy. a. Tm qui lut di truyn b. Xc nh kiu hnh F2 Gii: a. P thun chng , F1 ng tnh chn sm qu trng -> chn sm qu trng l tri so vi chn mun qu xanh. V F 1 d hp 2 cp gen. - Nu 2 cp gen PLL th f2 c tnh trng ng hp ln ( chn mun qu xanh t l 1/16 = 6,25% hay nu lin kt th t l l 25% 375 .100% = 1% 6,25% v 25% M bi ra cho t l F2 chn mun qu xanh = 37600 -> Di truyn theo qui lut hon v gen. ab b. = 1% = (10% giao t c ab x 10% giao t ci ab) ab Giao t ab = 10% 25% do y l giao t hon v Vy A lin kt vi b v a lin kt vi B -> KG ca B B 42 + 43 + 9 + 6 - Tn s HVG vng A = f (n A ) + f (kp) = = 10% 1000 d d 140 + 145 + 9 + 6 c ) + f (kp) = - Tn s HVG vng c = f (n = 30 1000

25

BI 15 + 16: DI TRUYN LIN KT VI GII TNH V DI TRUYN NGOI NHIM SC TH V-Di truyn lin kt vi gii tnh : 1.Cch nhn dng : -C s phn bit gii tnh ln tc qua cc th h . -S phn tnh khc nhau 2 gii . a)Gen trn NST X : -C hin tng di truyn cho . -Khng c alen tng ng trn NST Y . -Kt qu ca php lai thun v nghch khc nhau . -Tnh trng ln thng biu hin c th XY . b)Gen trn NST Y : -C hin tng di truyn thng . -Khng c alen tng ng trn NST X . -Tnh trng ch biu hin c th XY . 2.Cch gii : -Bc 1 :Qui c gen . -Bc 2 : Xt tng cp tnh trng . 3/1 == > Kiu gen : XA Xa X XAY . 1/1 == > Kiu gen : XA Xa X Xa Y ( tnh trng ln xut hin 2 gii ) Xa Xa X XA Y (tnh trng ln xut hin c th XY ). -Bc 3 : Xt c 2 cp tnh trng i sau xut hin t l khc thng . -Bc 4 : Xc nh kiu gen ca P hoc F1 v tnh tn s hon v gen . - Xc nh kiu gen ca (P) da vo (F1) . - Xc nh kiu gen ca (P) da vo (F1) . -Tn s hon v gen bng tng % ca cc c th chim t l thp . -Bc 5 : Vit s lai . BI 17+18: MC PHN NG-THNG BIN V BI TNG HP 1.2. Da vo kt qu phn ly kiu hnh trong php lai phn tch: Da vo kt qu ca php lai xc nh t l v loi giao t sinh ra ca cc c th cn tm. + Nu t l KH 1:1 th l s di truyn 1 tnh trng do 1 gen chi phi + Nu t l KH 3:1 th c di truyn theo quy lut tng tc gen, trong tnh trng c 2 kiu hnh. - Tng tc b tr 9:7 Tng tc t ch 13:3 Tng tc cng gp 15:1

+ Nu c t l KH 1:2:1 th tnh trng c di truyn theo quy lut tng tc gen trong trng hp tnh trng c 3 kiu hnh. Tng tc b tr 9:6:1 Tng tc t ch ln 9:3:4 Tng tc t ch tri 12:3:1 + T l KH 1:1:1:1 l s di truyn tng tc b tr 1 tnh trng c 4 kiu hnh 9:3:3:1 hoc l lai 2 cp tnh trng tun theo nh lut phn ly c lp c t l kiu hnh l 9:3:3:1. 2.Nu bi khng xc nh t l phn li kiu hnh ca i con m ch cho bit 1 kiu hnh no con lai. 1 + Khi lai 1 cp tnh trng, t l 1 kiu hnh c bit bng hoc l bi s ca 25% (hay ). 4 26

+ Khi lai 2 cp tnh trng m t l 1 kiu hnh c bit bng hoc l bi s ca 6.25% (hay 1 ), hay khi lai n cp tnh trng m t t l ca KH bit cho php xc nh c s loi giao t ca 16 b (hoc m) c t l bng nhau v bng 25% hoc l c s ca 25%. l cc bi ton thuc nh lut Menden. V d: Cho lai 2 cy u thun chng khc nhau 2 cp tnh trng tng phn, F 1 thu c ton b cy thn cao - hoa . Cho F1 tp giao F2 thu c 16000 cy trong c 9000 cy thn cao - hoa . Hai cp tnh trng trn b chi phi bi quy lut di truyn. A. Tng tc t ch B. Phn li c lp T l cy cao- thu c th h F2 l C.Tng tc b tr D. Tng tc cng gp Gii:

9000 9 = = 56.25% l bi s ca 6.25% 16000 16

l bi ton thuc nh lut Menden => Chn p n B 3.Tnh trng do 1 hay 2 gen quy nh? Xc nh kiu gen tng ng ca c th lai: Ty vo s t hp i con ca tng php lai v tnh tri ln hon ton hay khng hon ton th h lai. + Php lai hai c th d hp (thng l cho F1 giao phi vi nhau) cho s t hp khng qu 4 th thng do 1 gen quy nh; s t hp hn 4 nhng khng qu 16 thng do 2 gen quy nh. * V d Khi lai F1 d hp c F2 phn ly t l 11: 2: 2: 1 (tng c 16 t hp) th chc chn khng phi l 1 gen quy nh. + Php lai phn tch F1: nu cho s t hp khng qu 4 nhng khng phi 1:1, lc ny li do 2 gen quy nh... * V d Khi lai phn tch c 3 : 1 xanh (4 t hp) th cng chc chn khng phi l 1 gen. + Lai F1 vi 1 c th bt k: s t hp ti a khi lai hai c th d hp vi nhau, t c th loi tr cc kh nng khng ng. *V d Khi lai hai c th bt k v tnh trng A m cho con ti 8 t hp th chc chn tnh trng do 2 gen quy nh, trong 1 c th d hp c 2 gen, 1 c th d hp 1 gen (thng l d hp v ng hp ln gen cn li)... 4. Gen ny c gy cht khng? Du hiu ca kiu ny l s t hp i con khng chn, c th l 3, 7,.. thay v 4, 8... y l 1 du hiu t gp nhng vn phi ngh n. Nu i con phn ly t l c bit VD 2:1 th gn nh c th chc chn l gen gy cht, v thng l gy cht trng thi ng hp tri. 5. Cc trng hp ring: + Da vo kt qu phn li kiu hnh ca F1 lai vi c th khc. cn ch nhng t l c bit sau y: 7:1; 4:3:1; 6:1:1; 5:3 y l t l ca tnh trng ny sinh do tng tc gen, ty tng trng hp c th m xc nh chnh xc tnh trng c xt, di truyn theo quy lut di truyn no. + Trng hp ng tri da vo iu kin nh: 1 tnh trng c qui nh bi 1 cp gen c 3 alen, IA = IB > IO. S kiu gen ti a l 6, s kiu hnh ti a l 4. TICH HOP XAC SUAT I/ NI DUNG Th d m u 27

Th d 1: Galactosemia l mt bnh di truyn ngi do mt allele ln trn NST thng qui nh. Mt cp v chng mun sinh con nhng lo ngi v ngi v c m bnh, ngi chng c cha bnh. Ngoi ra khng c trng hp bnh ca nhng ngi khc trong gia nh cp v chng ny. Bn hy cho h bit xc sut a con trai u ca h c bnh l bao nhiu? Th d 2: Gi s t l gii tnh l 1 : 1, hy tnh xc sut 5 a b sinh ra t cng mt cp b m gm: a) Ba gi v hai trai b) Xen k gii tnh, b u lng l trai c) Xen k gii tnh d) Tt c u l gi e) Tt c u c cng gii tnh f) C t nht l 4 b gi g) Mt gi u lng v mt trai t. 1/ nh ngha xc sut: Xc sut (P) mt s kin xy ra l s ln xut hin s kin (a) trn tng s ln th (n): P = a/n Th d: P Thn cao x thn thp F1 100% thn cao F2 787 thn cao 277 thn thp Xc sut xut hin cy thn cao l: 787/(787 + 277) = 0.74 2/ Cc qui tc tnh xc sut 2.1. Qui tc cng xc sut Khi hai s kin khng th xy ra ng thi (hai s kin xung khc), ngha l s xut hin ca s kin ny loi tr s xut hin ca s kin kia th qui tc cng s c dng tnh xc sut ca c hai s kin: P (A hoc B) = P (A) + P (B) Th d: u H Lan ht vng ch c th c mt trong hai kiu gen AA (t l 1/4) hoc Aa (t l 2/4). Do xc sut (t l) ca kiu hnh ht vng (kiu gen AA hoc Aa) s l 1/4 + 2/4 = 3/4. 2.2. Qui tc nhn xc sut Khi hai s kin c lp nhau, ngha l s xut hin ca s kin ny khng ph thuc vo s xut hin ca s kin kia th qui tc nhn s c dng tnh xc sut ca c hai s kin: P (A v B) = P (A) . P (B) Th d: ngi, bnh m mu - xanh lc do gen ln nm trn nhim sc th gii tnh X qui nh. Khng c gen trn nhim sc th Y. B, m XAXa x XAY, xc sut cp v chng ny sinh con trai u lng b bnh l bao nhiu? => Xc sut sinh con trai l 1/2 v xc sut con trai b bnh l1/2. Do : P ( trai b bnh) = 1/2.1/2 = 1/4 2.3. Qui tc phn phi nh thc

28

Khi xc sut ca mt s kin X l p v xc sut ca s kin Y l q th trong n php th, xc sut s kin X xut hin x ln v s kin Y xut hin y ln s tun theo qui tc phn phi nh thc:
n P( X = p (1x p ) C x ) n x
n x

P X ( )
trong

n = p1 x p C (x )

n! x Cn = xn x) ! ( !
n! = n(n 1)(n 2) ... 1 v 0! = 1 x+y=n y=nx p+q=1q=1p

Do cng thc trn cn c th vit l:

P=
Th d 1

n! x y pq x!y!

ngi gen b gy bnh bch tng so vi B qui nh mu da bnh thng. Mt cp v chng kiu gen u d hp c 5 a con. Xc sut c hai con trai bnh thng, 2 con gi bnh thng v mt con trai bch tng l bao nhiu? Phn tch Xc sut sinh con trai hoc con gi u = 1/2 Xc sut sinh con bnh thng = 3/4 Xc sut sinh con bnh bch tng = 1/4 Nh vy theo qui tc nhn: Xc sut sinh 1 con trai bnh thng = (1/2)(3/4) = 3/8 Xc sut sinh 1 con gi bnh thng = (1/2)(3/4) = 3/8 Xc sut sinh 1 con trai bch tng = (1/2)(1/4) = 1/8 Xc sut sinh 1 con gi bch tng = (1/2)(1/4) = 1/8 Do :

P=

5! (3/ 8) 2 8) 2 (3/ (1/8)1 8) 0 (1/ 2! 2! 1 0! ! = 30.(3/8) 4 (1/8) 1 0 = ,074

Th d 2 Tnh xc sut mt cp v chng sinh 4 ngi con: 1. gm mt trai, ba gi? 2. gm mt trai, ba gi, nhng u lng l trai? Phn tch Cc kh nng c th xy ra: T G G G = (1/2)(1/2)(1/2)(1/2) = (1/2)4 29

hoc hoc hoc

G G G

T G G

G T G

G = (1/2)(1/2)(1/2)(1/2) = (1/2)4 G = (1/2)(1/2)(1/2)(1/2) = (1/2)4 T = (1/2)(1/2)(1/2)(1/2) = (1/2)4

P = (1/2)4 + (1/2)4 + (1/2)4 + (1/2)4 = 4 . (1/2)4 =1/4 Nhn xt Nh vy 1. Phn phi nh thc = qui tc nhn + qui tc cng 2. Phn phi nh thc c s dng khi khng ch n th t ca cc s kin. 3. Qui tc nhn c p dng trong trng hp c lu n trt t sp xp. 3/ Bi ton tng tc cng gp P AABBDD x aabbdd Ht thm Ht trng F1 AaBbDd (100% Ht ) F1 ttp AaBbDd x AaBbDd F2: 1 ht thm: 6 ht sm : 15 ht : 20 ht nht : 15 ht hng : 6 ht hng nht : 1 ht trng: Phn tch Kt qu php lai tun theo qui tc phn phi nh thc (T + L)n trong T = alen tri L = alen ln n = tng s alen (lun l bi s ca 2) Trong th d trn n = 6 (T + L)6 = 1T6 : 6 T5L1 : 15 T4L2 : 20 T3L3 : 15 T2L4 : 6 T1L5 : 1 L6 Phn tch C th xc nh h s ca nh thc bng cch dng tam gic Pascal: n=1 1 n=2 1 2 1 n=3 1 3 3 1 n=4 1 4 6 4 1 n=5 1 5 10 10 5 1 n=6 1 6 15 20 15 6 1 .. C th xc nh nhanh h s ca nh thc bng cch tnh t hp.
x Cn =

Trong

x = s alen tri (hoc ln) trong kiu gen n = tng s alen Th d: tnh t l ca kiu hnh m trong kiu gen c hai gen (alen) tri v 4 gen (alen) ln:

n! x !( n x )!

C62 =

6! 4! 5 6 x x = 2!(6 2)! x 4! 2

30 =15 2

30

II/ THC TIN GII BI TP. Bi tp 1: ( Bi 1 SGK Sinh hc 12 c bn - trang 66) Bnh Phninkt niu ngi l do mt gen ln nm trn nhim sc th thng quy nh v di truyn theo quy lut Menen. Mt ngi n ng c c em gi b bnh, ly mt ngi v c ngi anh trai b bnh. Cp v chng ny lo s con mnh sinh ra s b bnh. Hy tnh xc sut cp v chng ny sinh a con u lng b bnh? Bit rng, ngoi ngi anh chng v em v b bnh ra, c bn v v bn chng khng cn ai khc b bnh. Phn tch: Do tun theo nh lut menen Do ch c em chng v anh v b bnh C ng b gi chng v ng b gi v u c kiu gen: Aa ( A bnh thng > a b bnh) Cp v chng ny c con b bnh khi b Aa v m Aa Xc sut b c kiu gen Aa = 2/3 v xc sut m c kiu gen Aa = 2/3 v xc sut sinh con b bnh l 1/4 p dng quy tc nhn xc sut: P = 2/3 x 2/3 x 1/4 = 1/9 1/ Tnh xc sut c v ci trong nhiu ln sinh a. Tng qut: - Mi ln sinh l mt s kin hon ton c lp, v c 2 kh nng c th xy ra: hoc c hoc ci vi xc sut bng nhau v = 1/2. - Xc sut xut hin c, ci trong n ln sinh l kt qu ca s t hp ngu nhin: (+) (+)(+) = (+)n n ln S kh nng xy ra trong n ln sinh = 2n - Gi s l a, s l b b = n a - S t hp ca a v b l kt qu ca Cna Lu : v b = n a nn ( Cna = Cnb ) *TNG QUT: - Xc sut trong n ln sinh c c a v b l kt qu ca Cna / 2n Lu : ( Cna / 2n = Cnb/ 2n) b. Bi ton Mt cp v chng d kin sinh 3 ngi con v mun c c 2 ngi con trai v 1 ngi con gi. Kh nng thc hin mong mun l bao nhiu? Gii Mi ln sinh l mt s kin hon ton c lp, v c 2 kh nng c th xy ra: hoc c hoc ci vi xc sut bng nhau v = 1/2 do : - S kh nng xy ra trong 3 ln sinh = 23 - S t hp ca 2 v 1 = C32 Kh nng trong 3 ln sinh h c c 2 trai v 1 gi = C32 / 23 = 3!/2!1!23 = 3/8

2/ Xc nh tn s xut hin cc alen tri hoc ln trong trng hp nhiu cp gen d hp PLL, t th a. Tng qut: GV cn lu vi HS l ch p dng i vi trng hp cc cp gen PLL v u trng thi d hp - Gi n l s cp gen d hp s alen trong mt KG = 2n - S t hp gen = 2n x 2n = 4n 31

- Gi s alen tri ( hoc ln) l a S alen ln ( hoc tri) = 2n a - V cc cp gen PLL t hp ngu nhin nn ta c: (T + L) (T + L) (T + L) = (T + L)n (K hiu: T: tri, L: ln) n ln - S t hp gen c a alen tri ( hoc ln ) = C2na *TNG QUT: Nu c n cp gen d hp, PLL, t th th tn s xut hin t hp gen c a alen tri ( hoc ln ) = C2na / 4n b. Bi ton: Chiu cao cy do 3 cp gen PLL, tc ng cng gp quy nh.S c mt mi alen tri trong t hp gen lm tng chiu cao cy ln 5cm. Cy thp nht c chiu cao = 150cm. Cho cy c 3 cp gen d hp t th. Xc nh: - Tn s xut hin t hp gen c 1 alen tri, 4 alen tri. - Kh nng c c mt cy c chiu cao 165cm Gii * Tn s xut hin : t hp gen c 1 alen tri = C2na / 4n = C61 / 43 = 6/64 t hp gen c 4 alen tri = C2na / 4n = C64 / 43 = 15/64 - Cy c chiu cao 165cm hn cy thp nht = 165cm 150cm = 15cm c 3 alen tri ( 3.5cm = 15cm ) * Vy kh nng c c mt cy c chiu cao 165cm = C63 / 43 = 20/64

3/ Xc nh tng s KG, s KGNG HP, KGD HP trong trng hp nhiu cp gen PLL, mi gen c 2 hoc nhiu alen a. Tng qut: xc nh tng s KG, s KGH, KGDH trong trng hp nhiu cp gen PLL, mi gen c 2 hoc nhiu alen, GV cn phi cho HS thy r: * Vi mi gen: Phn tch v chng minh s KGDH, s KGH, s KG ca mi gen, ch ra mi quan h gia 3 yu t vi nhau v vi s alen ca mi gen: - S alen ca mi gen c th ln hn hoc bng 2 nhng trong KG lun c mt ch 2 trong s cc alen . - Nu gi s alen ca gen l r th s KGDH = Cr2 = r( r 1)/2 - S KGH lun bng s alen = r - S KG = s KGH + s KGDH = r +r( r 1)/2 = r( r + 1)/2 * Vi nhiu gen: Do cc gen PLL nn kt qu chung = tch cc kt qu ring V vy GV nn gi cho HS lp bng sau: GEN I II III . . . n S ALEN/GEN 2 3 4 . . . r S KIU GEN 3 6 10 . . . r( r + 1)/2 S KG NG HP 2 3 4 . . . r S KG D HP 1 3 6 . . . r( r 1)/2

( Lu : thay v tnh r( r + 1)/2, c th tnh nhanh 1 + 2 + 3 + +r ) b. Bi ton: 32

Gen I v II ln lt c 2, 3 alen. Cc gen PLL. Xc nh trong qun th: - C bao nhiu KG? - C bao nhiu KG ng hp v tt c cc gen? - C bao nhiu KG d hp v tt c cc gen? - C bao nhiu KG d hp v mt cp gen? - C bao nhiu KG t nht c mt cp gen d hp? Gii Da vo cng thc tng qut v do cc cp gen PLL nn kt qu chung bng tch cc kt qu ring, ta c: * S KG trong qun th = r1(r1+1)/2 . r2(r2+1)/2 = 2(2+1)/2 . 3(3+1)/2 = 3.6 = 18 * S KG ng hp v tt c cc gen trong qun th = r1. r2 = 2.3 = 6 * S KG d hp v tt c cc gen trong qun th = r1(r1-1)/2 . r2(r2-1)/2 = 1.3 = 3 * S KG d hp v mt cp gen: K hiu : : ng hp ; d: d hp gen I c: (2+ 1d) gen II c: (3 + 3d) i vi c 2 gen l kt qu khai trin ca : (2 + 1d)(3 + 3d) =2.3 + 1.3dd+ 2.3d + 1.3d - Vy s KG d hp v mt cp gen = 2.3 + 1.3 = 9 * S KG d hp v t nht mt cp gen: S KG d hp v t nht mt cp gen ng ngha vi vic tnh tt c cc trng hp trong KG c cha cp d hp, tc l bng s KG s KG ng hp v tt c cc gen ( thay v phi tnh 1.3dd+ 2.3d + 1.3d ) -Vy s KG trong t nht c mt cp d hp = s KG s KG ng hp = 18 6 = 12 6/ Mt s bi tp m rng T nhng kin thc t hp v xc sut c bn phn tch trn, GV c th gip cc em vn dng linh hot gii nhng bi tp c phn phc tp, tru tng hn. Sau y l mt vi v d: 6.1) Bi tp 1 C 5 qu trng sp n. Nhng kh nng no v gii tnh c th xy ra? Tnh xc sut mi trng hp? Gii: * Nhng kh nng v gii tnh c th xy ra v xc sut mi trng hp: Gi a l xc sut n ra con trng, b l xc sut n ra con mi : ta c a = b = 1/2 5 ln n l kt qu ca (a + b)5 = C50a5 b0 + C51 a4 b1 + C52 a3 b2 + C53a2 b3 + C54 a1 b4 + C55 a0 b5 = a5 + 5a4 b1 + 10a3 b2 + 10a2 b3 + 5a1 b4 + b5 Vy c 6 kh nng xy ra vi xc sut nh sau : - 5 trng = a5 = 1/25 = 1/32 - 4 trng + 1 mi = 5a4 b1 = 5. 1/25 = 5/32 3 2 5 - 3 trng + 2 mi = 10a b = 10.1/2 = 10/32 - 2 trng + 3 mi = 10a3 b2 = 10.1/25 = 10/32 - 1 trng + 4 mi = 5a1 b4 = 5.1/25 = 5/32 5 5 - 5 mi =b = 1/2 = 1/32 6.2) Bi tp 2 Bnh mu kh ng ngi do t bin gen ln nm trn NST gii tnh X,alen tri tng ng quy nh ngi bnh thng. Mt gia nh c ngi chng bnh thng cn ngi v mang gen d hp v tnh trng trn. H c d nh sinh 2 ngi con. a/ Nhng kh nng no c th xy ra? Tnh xc sut mi trng hp? b/ Xc sut c c t nht 1 ngi con khng b bnh l bao nhiu? 33

Gii Ta c SL P: XAY x XAXa A F1 : 1X Y , 1XaY , 1XAXA , 1XAXa Trng hp ny c lin quan n gii tnh, s kin c nhiu kh nng v xc sut cc kh nng l khng nh nhau. Nht thit phi t a, b, c cho mi kh nng. T kt qu lai ta c xc sut sinh con nh sau: - Gi a l xc sut sinh con trai bnh thng : a = 1/4 - Gi b l xc sut sinh con trai b bnh : b = 1/4 - Gi c l xc sut sinh con gi bnh thng : c = 1/4 + 1/4 = 1/2 a/ Cc kh nng c th xy ra v xc sut mi trng hp: Hai ln sinh l kt qu ca (a + b + c)2 = a2 + b2 + c2 + 2ab + 2bc + 2ca. Vy c 6 kh nng xy ra vi xc sut nh sau : - 2 trai bnh thng = a2 = (1/4)2 = 1/16 - 2 trai bnh = b2 = (1/4)2 = 1/16 2 2 - 2 gi bnh thng =c = (1/2) = 1/4 - 1 trai bnh thng + 1 trai bnh = 2ab = 2.1/4.1/4 = 1/8 - 1 trai bnh + 1 gi bnh thng = 2bc = 2.1/4.1/2 = 1/4 - 1 gi bnh thng + 1 trai bnh thng = 2bc = 2.1/2.1/4 = 1/4 b/ Xc sut c t nht 1 ngi con khng b bnh : Trong cc trng hp xt cu a, duy nht c mt trng hp c 2 ngi con u mc bnh ( 2 trai bnh) vi xc sut = 1/16. Kh nng t nht c c 1 ngi con khng mc bnh ng ngha vi tr trng hp c 2 ngi u mc bnh. Vy xc sut c t nht 1 ngi con khng b bnh = 1 1/16 = 15/16. 6.3) Bi tp 3 u H lan, tnh trng ht mu vng tri hon ton so vi tnh trng ht mu xanh.Tnh trng do mt gen quy nh nm trn NST thng. Cho 5 cy t th v sau khi thu hoch ly ngu nhin mi cy mt ht em gieo c cc cy F1 . Xc nh: a/ Xc sut F1 c 5 cy u cho ton ht xanh? b/ Xc sut F1 c t nht 1 cy c th cho c ht vng? Gii a/ Xc sut F1 c 5 cy u cho ton ht xanh: Ta c SL P: Aa x Aa F1 : 1AA , 2Aa , 1aa KH : 3/4 vng : 1/4 xanh Nu ly ngu nhin mi cy 1 ht th xc sut mi ht ly ra: 3/4 l ht vng , 1/4 l ht xanh . y l trng hp cc kh nng c xc sut khng nh nhau. - Gi a l xc sut ht c ly l mu vng : a = 3/4 - Gi b l xc sut ht c ly l mu xanh : b = 1/4 Xc sut 5 ht ly ra l kt qu ca (a + b)5 = a5 + 5a4 b1 + 10a3 b2 + 10a2 b3 + 5a1 b4 + b5 C 6 kh nng xy ra, trong 5 ht u xanh = b5 = (1/4)5 . c 5 cy F1 u cho ton ht xanh tc c 5 ht ly ra u l ht xanh (aa) Vy xc sut F1 c 5 cy u cho ton ht xanh = (1/4)5 b/ Xc sut F1 c t nht 1 cy c th cho c ht vng: F1 t nht c 1 cy cho c ht vng ng ngha vi tr trng hp 5 ht ly ra u xanh (aa) Vy xc sut F1 c t nht 1 cy c th cho c ht vng = 1 (1/4)5 . V d 2: php lai AaBbccDdee x AabbccDdEe s sinh ra kiu gen aabbccddee chim t l bao nhiu ? (Vi 5 cp gen nm trn 5 cp NST khc nhau, cc tnh trng u tri hon ton.) Gii: trng hp ny ta xt 5 php lai c lp nhau: 34

Aa x Aa Bb x bb cc x cc 1cc

3 A- + 4 1 B- + 2

1 aa 4 1 bb 2

3 1 D- + dd 4 4 1 1 Ee x ee E- + ee 2 2 Vy kiu gen aabbccddee sinh ra i con chim t l l: 1 1 1 1 1 x x1x x = 4 2 4 2 64 Dd x Dd V d 3: Cho lai 2 c th AaBbCc, vi 3 cp gen nm trn 3 cp NST khc nhau, cc tnh trng u tri hon ton. a. T l kiu di truyn c th d hp 2 cp gen, cp gen cn li ng hp: 1 8 24 32 A. B. C. D. 64 64 64 64 b. T l kiu di truyn c th d hp 1 cp gen, 2 cp cn li ng hp: 1 8 24 32 A. B. C. D. 64 64 64 64 Gii: Ta xt 3 php lai c lp nhau: 1 2 1 Aa x Aa AA + Aa + aa 4 4 4 1 2 1 Bb x Bb BB + Bb + bb 4 4 4 1 2 1 Cc x Cc CC + Cc + cc 4 4 4 a. C th d hp 2 cp gen, cp gen cn li ng hp l : AaBbCC; AaBbcc; AaBBCc; AabbCc; AABbCc; aaBbCc 2 2 1 4 M t l ca tng kiu gen l : x x = 4 4 4 64 Tng t cho cc kiu hnh cn li Vy t l kiu di truyn c th d hp 2 cp gen, cp gen cn li ng hp l: 2 2 1 4 24 ( x x )x6= x6= 4 4 4 64 64 Chn p n C b. C th d hp 1 cp gen, 2 cp cn li ng hp l: AaBBCC; AabbCC; Aabbcc; AaBBcc; AABbCC; AABbcc; aaBbCC; aaBbcc; AABBCc; AAbbCc; aaBBCc; aabbCc 2 1 1 2 M t l ca tng kiu gen l: x x = 4 4 4 64 Tng t cho cc kiu hnh cn li Vy t l kiu di truyn c th d hp 1 cp gen, 2 cp cn li ng hp l:

35

2 1 1 2 24 x x ) x 12 = x 12 = 4 4 4 64 64 Chn p n C

T l phn li kiu hnh = Tch cc t l kiu hnh ring l ca mi cp gen. Dng 1: Bin d khng lin tc * Kin thc c bn cn nh: - L loi thng bin v mt s lng nh: s con c sinh ra trong mt la ln, g - thng yu cu v ng biu din v tnh trng c nghin cu, tnh tr s trung bnh, lch trung bnh. - Da vo bng bin thin ta ghi cc gi tr ca bin s v (s thay bin v nng sut) trc honh; ghi gi tr ca tn s p (s c th c cng nng sut) trc tung. Sau ni cc im li s c mt ng biu din. - Tr s trung bnh (m): c xem nh nng sut trung bnh ca mt ging.

Bin s no cng gn tr s trung bnh s c tn s cng cao v ngc li. - lch chun (S): c tnh theo biu thc:

- lch chun cng ln th mc phn ng ca tnh trng cng rng. Bi 1. Khi nghin cu v kh nng sinh sn ca mt li ln gm 88 con ln ni, ngi ta lp c bng bin thin nh sau: V 5 6 7 8 9 10 11 12 13 14 15 P 1 3 6 10 15 25 12 8 5 2 1 v: s ln con trong mt la (l bin s). p: s ln ni c cng nng sut (l tn s). a. V th biu din kh nng sinh sn ca ni ln trn. b. Tnh tr s trung bnh v s lng ln con c trong mt la. c. Tnh lch trung bnh v s ln con trn mt la ca ni ln trn. Bi gii a. V th:

b. Tnh tr s trung bnh: - Tng s ln con ca c 88 con ln ni: vp = 5 + 18 + 42 + 80 + 135 + 250 + 132 + 96 + 65 + 28 + 15 = 866. - Vy tr s trung bnh v s ln con c sinh ra trong mt la : 36

m = (866/88) 9,8. c. lch trung bnh: p dng biu thc:

Dng 2: Bin d lin tc - L loi thng bin v mt cht lng nh t l b trong mt lit sa; lng vitamin A c trong ni nh ca ng; lng vitamin C trong cam, quyt - Mun v th, ta biu din cc bin s thnh ct hnh ch nht v chn im gia. - Khi tnh ch s trung bnh ta chn gi tr gia bin s ca mt khong, sau p dng cng thc tnh m nh bnh thng. Bi 2. Khi kho st v t l b trong sa ca 28 con b ci, ngi ta lp c bng bin thin sau: v 3,5 3,6 3,7 3,8 3,9 4,0 4,1 p 1 1 3 4 7 5 3 v: T l % b trong sa. p: s b ci cho t l % b trong sa ging nhau. Hy v th biu din v t l % b trong sa ca ging b trn. Bi gii th biu din v t l % b trong sa ca ging b ni trn nh sau: 4,2 2 4,3 2

Chuong 6 Di truyn hc ngi Bi 1 tm tt li thuyt Tm tt l thuyt Ph h l s biu th s di truyn mt tnh trng no qua cc th h ca mt gia nh hay mt dng h. Nghin cu di truyn ph h gip con ngi bit c: + Tnh cht tri, ln ca tnh trng cn quan tm. + Gen quy nh tnh trng nm trn NST thng hoc NST gii tnh. + Xc nh kiu gen cc c th trong ph h. + D on kh nng xut hin tnh trng cc th h con, chu. Nghin cu tr ng sinh gip con ngi pht hin nhng tnh trng no ca loi ngi c quyt nh ch yu bi kiu gen hoc ch yu bi mi trng sng. Nghin cu t bo gip con ngi bit trc kh nng pht trin bnh thng hay bt thng ca thai nhi bng cch quan st b NST t bo bch cu. T can thip theo hng c li.

BI 20+21: DI TRUYN HC QUN TH DNG 1: TNH TN S KIU GEN V TN S ALEN Trong qun th ngu phi, xt 1 locus gen gm 2 alen A v a

37

K iu h n h K iu g en A A S l n g NA A
N

Hn g Aa NA a
H= N Aa N

T rn g aa Na a
R=

Tn g

N
Naa 1 N

Tn s K G D = N A

1. Da vo tn s kiu gen: f(A) = p = D + H f(a) = q = R + H 2. Da vo s lng c th:

2N A N A A + a p = 2N 2Na N A a + a q = 2N

DNG 2: QUN TH T PHI Xt qun th khi u TH1: 100% Aa: qua n th h t th=> Aa=(1/2)n v AA=aa=[1-(1/2)n]/2 TH2: TS Kiu gen dAA + h Aa + r aa =1 Qua n th h t th Aa=h.(1/2)n=H` AA= d + [ (h-H`):2] aa= r + [(h-H`):2] Lu : Qua n th h t th tn s KG ng hp tng, di hp gim, tn s alen khng i H s ni phi (inbreeding coefficient ) h s ni phi (F). l xc xut m hai allele ti mt locus trong mt c th l ging nhau v ngun gc (cc allele c coi l ging nhau v ngun gc khi hai allele trong mt c th lng bi bt ngun t mt allele c th ca t tin). Tnh cht ca h s ni phi (F): + Tr s F chy t 0 dn 1 . + F = 1 khi tt c cc kiu gene trong qun th l ng hp cha cc allele ging nhau v ngun gc. + F = 0 khi khng c cc allele ging nhau v ngun gc. + Trong mt qun th ngu phi c kch thc ln, F c coi l gn bng 0, bi v bt k s ni phi no cng c th xy ra gia cc c th h hng rt xa v v vy s c tc dng nh ln h s ni phi . Gi s rng qun th gm ba kiu gene AA, Aa v aa c phn tch thnh mt t l ni phi (F) v mt t l ngu phi (1 - F). Trong qun th ni phi, tn s ca AA, Aa, v aa tng ng l p , 0, v q. y l t l ca cc dng c k vng i vi mi kiu gene, nu nh s t th tinh hon ton din ra lin tc. Bng cch cng cc t l ni phi v ngu phi vi nhau v s dng mi quan h q = 1 p, lc tn s cc kiu gene tr thnh nh sau (xem bng 1): P = p2 + Fpq H = 2pq 2Fpq 38

Q = q2 + Fpq Trong mi phng trnh trn, s hng u l t l H-W ca cc kiu gene v s hng sau l lch so vi tr s . Lu rng cc c th ng hp, v d AA, c th hoc l do hai allele ging nhau v ngun gc, ngha l bt ngun t cng mt allele t tin (s hng Fpq) hoc l do hai allele ging nhau v loi sinh ra qua ngu phi (s hng p2). ln ca h s ni phi phn nh lch ca cc kiu gene so vi cc t l H-W; ngha l, lc F = 0 th cc hp t t t l H-W, v khi F > 0 do c ni phi, th xy ra s gim thiu cc th d hp v di tha cc th ng hp. Bng 1 Tn s ca cc kiu gene khc nhau khi trong qun th xy ra c ni phi ln ngu phi Kiu gene AA Aa aa Ni phi (F) Fp Ngu phi (1 F) Tng

(1 F)p2 (1 F)2pq

Fp + (1 F )p2 = p2 + Fpq 1 F)2pq = 2pq 2Fpq

Fq (1 F)q2 F 1F Tnh ton h s ni phi H = 2pq 2Fpq = (1 F)2pq 1 F = H/2pq Suy ra F = 1 (H/2pq)

Fq + (1 F)q2 = q2 + Fpq 1 1

(F) l t s gia mc d hp t quan st c (H) v mc d hp t k vng (2pq). Trng hp c ni phi, H nh hn 2pq, v vy F > 0. Nu nh khng c th d hp no c (H = 0), th h s ni phi bng 1. Nhiu loi thc vt c h thng giao phi bao gm c t th phn v giao phn t do vi cc c th khc. Nu nh t l t th phn cao, th hu nh tt c cc c th trong qun th l cc th ng hp. V d, mt qun th thc vt gm ba kiu gene AA, Aa v aa vi cc tn s tng ng l P = 0,70, H = 0,04 v Q = 0,26. Ta c th c tnh h s ni phi nh sau : Trc tin, tnh c cc tn s allele A v a (p v q ): p = 0,70 + (0,04) = 0,72 v q = 1 p = 0,28 Vy h s ni phi F = 1 ( 0,04/2 x 0,72 x 0,28 ) = 0,901 Tr s F y rt cao, gi rng hu ht qun th ny sinh sn bng t th phn v ch mt s rt nh l tp giao. Phng php th hai thu nhn h s ni phi cho i con l t mt ph h trong c xy ra s giao phi cn huyt (consanguineous mating). Trong trng hp ny ta s dng mt ph h tnh xc xut ca cc t hp cha cc allele ging nhau v ngun gc i con. V d, ta hy tnh h s ni phi cho mt i con ca hai anh ch em bn ng huyt (half-sibs), tc cc c th sinh ra t cng mt b (hoc m). Hnh 1a cho ph h v kiu giao phi ny, trong X v Y l hai anh em c cng m nhng khc cha. Ngi m ca X v Y c biu th l t tin chung (CA = common ancestor). Cn hai ngi cha khng gp phn vo h s ni phi c biu din bng cc hnh vung trng. hnh 1b, cng mt ph h nh th nhng biu din theo mt cch khc, b qua cc k hiu cha m cn cc du qu trm biu th cho tt c cc c th, v gii tnh khng quan trng trong vic xc nh h s ni phi y. Cc mi tn trn hnh v ch hng truyn t b m n con ci. 39

Hnh 1 Ph h minh ha s kt hn gia hai anh em bn ng huyt, X v Y. (a) vi tt c cc c th; (b) khng c b. y CA = t tin chung, v ng k i ch s giao phi cn huyt. Gi s ngi m (CA) c kiu gene l Aa. tnh h s ni phi, ta cn phi bit xc sut m a chu ca b, Z, c kiu gene AA hoc aa, l ging nhau v ngun gc i vi mt trong hai allele ca b. Trc tin ta xt Z l AA, ch c th xy ra nu nh mi bn X v Y u ng gp vo Z mt giao t cha A. Xc sut ca allele A trong X l xc sut m mt allele A n t CA, hay . V xc sut truyn t allele A t X sang Z cng l , nn xc sut kt hp ca hai s kin ny l x = (qui tc nhn xc sut). Tng t, xc sut Z nhn c allele A t Y l . V vy xc sut ca mt a con AA nhn c allele A t mi bn X v Y l x = 1/16 hay 0,0625. Bng phng php ny ta tnh c xc sut ca mt a con c kiu gene aa l 1/16. Nh vy xc sut ton b cc t hp c cha cc allele ging nhau v ngun gc Z lc l 1/16 + 1/16 = 1/8 hay 0,125 (qui tc cng xc sut ). n gin, trong tnh ton h s ni phi t mt ph h ngi ta xut mt phng php gi l k thut m chui (chain-counting technique). Mt chui i vi mt t tin chung cho trc bt u vi mt b m ca c th ni phi, ngc tr ln ph h cho n t tin chung, v tr li vi b m . V d, t hnh 12.1 ta lp c chui n gin X-CA-Y. S c th trong chui (n) c dng tnh h s ni phi trong cng thc sau y: F = (1/2)n. Vi v d trn, h s ni phi l (1/2)3 = 0,125.

=fd hp t tnh theo l thuyt x (1-F) f biu din tn s KG, F=1 ni phi hon ton DNG 4: NGU PHI (TRNG THI CN BNG CA QUN TH)
d hp t quan st thc t

CHNG MINH QUN TH CN BNG 1 Xt 1 gen trong c hai alen (A, a): + Gi P (A): tn s tng i ca alen A. q (a): Tn s tng i ca alen a. + S t hp ca hai alen c tn s tng i trn hnh thnh qun th c cu trc di truyn nh sau?

+ Trng thi cn bng ca qun th biu hin qua tng quan:

i vi gen nm trn NST gii tnh qun th t trng thi cn bng khi t l cc loi giao t A v a phn c v phn ci bng nhau : P(A) ca c = P(A) ca ci ; P(a) ca c = P(a) ca ci (0,25) * Qun th cha cn bng sau bao nhiu th h th cn bng: 40

Trng hp 1: Gen nm trn NST thng: + Nu t l cc loi giao t c v ci bng nhau th sau mt th h ngu phi cu trc di truyn ca qun th s cn bng. (0,25) + Nu t l cc loi giao t c v ci khng bng nhau th phi qua hai th h: th h u c s san bng tn s cc alen, th h th hai mi c s cn bng. (0,25) Trng hp 2: Gen nm trn NST gii tnh: Thng phi tri qua nhiu th h nu tn s cc alen gia c v ci khc nhau qu nhiu. (0,25 2. Xt mt gen c 3 alen : (gen quy nh cc nhm mu h O, A, B c alen IA, IB, Io) + Gi p(IA): Tn s tng i ca alen IA. q(IB): Tn s tng i ca alen IB r(Io): Tn s tng i ca alen Io p(IA) + q(IB) + r (Io) = 1.

3. Tnh s kiu gen trong vn gen qun th Cch 1. Da vo s

r (r+1) n r s alen thuc thuc mt gen


2 n l s gen khc nhau

S alen S kiu gen 1 2 3 4 5 Cch 2. Da vo cng thc Vi n = s alen ca mt locus gen S kiu gen ng hp = n S kiu gen d hp = C2
n

1 3 6 10 15.

n! ( 2) !( n 1) n n = 2 !(n 2) ! 2(n 2)!


n( n 1) =n + 2 n( n 1) + = 2

n( n 1) = 2

Tng s kiu gen =

n + C2 n

Th d: Trong qun th giao, nu mt gen c 4 alen th s giao phi t do s to ra bao nhiu t hp kiu gen? => p dng cng thc ta c: n(n + 1)/2 = 4(4+1)/2 = 10 Bi tp 2: ( Cu 8 HNG DN N TP THI TT NGHIP THPT NM 2008 2009 MN SINH - trang 47) Trong mt qun th giao phi, nu mt gen c 3 alen a1, a2, a3 th s giao phi t do s to ra A. 8 t hp kiu gen B. 4 t hp kiu gen 41

C. 3 t hp kiu gen D. 6 t hp kiu gen p dng cng thc tnh tng s kiu gen: 1 alen ===> 1 kiu gen 2 alen ===> 3 kiu gen 3 alen ===> 6 kiu gen => p n ng l cu D. 4. Tnh a hnh ca qun th giao phi Qu trnh giao phi l nguyn nhn lm cho qun th a hnh v kiu trn, s a hnh v kiu trn to nn s a hnh v kiu hnh. Chng hn, mt gen A c a alen a1 v a2 qua giao phi t do ra 3 t hp a1a1, a2a2. Nu gen A c 3 alen a1, a2, a3 s to ra 6 t hp a1a1, a1a2, a1a3, a2a2, a2a3, a3a3. Tng qut, nu gen A c r alen th qua giao phi t do, s t hp v gen A s l: GA = r(r -1)/2 Nu c 2 gen A v B nm trn nhng nhim sc th khc nhau, th s t hp cc alen v c 2 gen A v B cng mt lc s l: G = g A x g B V d gen A c 3 alen, gen B c 4 alen, th G = 6 x 10 = 60. 5. a allele (multiple alleles) Vi qun th ngu phi nh ni trc, y ta ch thay gi thit mt locus A c ba allele: A1, A2 v A3 vi tn s tng ng l p1, p2 v p3 (p1 + p2 + p3 = 1). Khi trong qun th c tt c su kiu gene vi s lng c th tng ng nh sau : Kiu gene : A1A1 : A2A2 : A3A3 : A1A2 : A1A3 : A2A3 Tng S lng : N11 : N22 : N33 : N12 : N13 : N23 Theo nguyn tc, ta tnh c cc tn s allele: p1 = N11 + (N12 + N13) p2 = N22 + (N12 + N23) p3 = N33 + (N13 + N33) sau mt th h ngu phi nh sau: (p1 + p2 + p3)2 = p12 + p22 + p32 + 2p1p2 + 2p1p3 + 2p2p3 = 1 Tng qut, mt locus c n allele s c tt c n(n + 1)/ 2 kiu gene, trong gm n kiu ng hp v n(n 1)/2 kiu d hp. Tn ca mt allele bt k (pi) c tnh theo cng thc: pi = pii+ trong pii - tn s kiu gene ng hp v pij- tn s kiu gene d hp. V d: Thng thng h nhm mu ABO c ly v d cho ba allele. V cc allele IA vIB l ng tri v allele IO l ln, nn trong qun th ngi bt k no cng s c bn nhm mu A, B, AB v O ng vi su kiu gene. tnh cc tn s allele trong trng hp ny ta phi gi nh qun th trng thi cn bng. t tn s ca cc allele IA, IB v IO ln lt l p, q v r (p+ q + r =1). Khi ta tnh c tn s H-W ca cc nhm mu chnh l cc tn s quan st c (bng 1). Phng php tnh cc tn s allele nh sau: Trc tin, tn s allele IO (r) bng cc cn bc hai ca tn s nhm mu O (r2). Tn s ca hai allele cn li, p v q, c tnh bng cch kt hp tn s H-W ca mt nhm mu A hoc B vi nhm mu O theo mt trong hai phng php sau: Phng php 1 Phng php 2 2 2 2 Ta c f(A+0) = p +2pr + r = (p + r) V p +q +r = 1 q +r = 1 p <=> p+r = Bnh phng 2 v ta c: N

42

(1 p)2 = (q + r)2 = f (B + O) => p = Tng t, ta c : q= r r <=> 1 p = => p = 1 Tng t, ta c: q = 1 Mt cch tng i, ta c th tnh p hoc q ri suy ra ci cn li da vo tng p + q + r =1. Tuy nhin, nu tnh cn thn c ba tn s theo mt trong hai phng php trn ta s bit c tr s thc ca chng. Khi tng cc tn s allele tnh dc s khng ng bng n v mt cch chnh xc. iu ny c l gii l do t l cc kiu gene trong mu khng phi l cc t l H-W chnh xc v hn na, nhm mu AB khng c s dng trong tnh ton. V vy, khi kiu hnh khng c s dng n ( y l nhm mu AB) m c tn s cao hn th s mt mt thng tin s nghim trng hn, v phi cn n mt phng php chnh xc hn. Bng 1 Tng quan gia cc nhm mu, kiu gene v tn s ca chng Nhm mu Kiu gene Tn s K vng A B O AB Tng IAIA + IAIO p2 + 2pr IBIB + IBIO q2 + 2qr IOIO r2 0,46684 IAIB 2pq 1 Quan st 0,41716 0,08560 0,03040 1,0

By gi ta hy xt mt mu nghin cu trn 190.177 phi cng vng quc Anh (UK) gm 79.334 A, 16.279 B, 88.782 O, v 5.782 AB ( Race v Sanger, 1954; dn theo Falconer 1989). Tng quan gia cc nhm mu, kiu gene v cc tn s ca chng c trnh by bng 1. p dng hai phng php trn ta tnh c cc tn s allele nh sau: Allele Tn s Phng php 1 IA 0,2569 IB 0,0600 IO 0,6833 Tng 1,0002 Phng php 2 0,2567 0,0598 0,6833 0,9998

6. Gen trn NST gii tnh i vi 1 locut trn NST X c 2 alen s c 5 kiu gen : 43

XAXA; XAXa; XaXa; XAY; XaY. Cc c th ci c 2 alen trn NST X v vy khi ch xt trong phm vi gii ci tn s cc kiu gen XAXA;XAXa;XaXa c tnh ging nh trng hp cc len trn NST thng, c ngha l tn s cc kiu gen trng thi cn bng Hacdi Van bec l: p2(XAXA) + 2pq(XAXa)+q2(XaXa) =1 Cc c th c ch c 1 alen trn X nn tn cc kiu gen gii c:p(XAY)+ q(XaY) =1 . Khi xt ch xt ring trong phm vi gii c. V t l c:ci= 1:1 nn t l cc kiu gen trn mi gii gim i mt na khi xt trong phm vi ton b qun th vy trng thi cn bng Haci Vanbec, cng thc tnh cc kiu gen lien quan n locut gen trn NST X (vng khng tng ng) gm 2 alen l: 0,5p2(XAXA) + pq(XAXa)+0,5q2(XaXa) +0,5p(XAY)+ 0,5q(XaY) =1 gii ng giao t, mi quan h gia tn s allele v tn s kiu gene tng t nh gen trn NST thng, nhng gii d giao t ch c hai kiu gene v mi c th ch mang mt allele. allele A1 v A2 vi tn s tng ng l p v q, v t cc tn s kiu gene nh sau: Gii ci Gii c Kiu gene: A1A1 A1A2 A2A2 A1 A2 Tn s : P H Q R S Theo nguyn tc, ta xc nh c tn s ca mt allele (v d A1): - gii ci (pc): pc = P + H - gii c (p): p = R - chung c qun th ( ): = pc + p = 1/3 (2pc + p) = 1/3 (2P + H + R) Lu : Mi con ci c hai nhim sc th X v mi con c ch c mt X; v t l c : ci trn nguyn tc l 1:1, cho nn 2/3 cc gene lin kt gii tnh trong qun th l thuc v gii ci v 1/3 thuc v gii c. V vy, tn s ca cc allele A1 trong c qun th l: = pc + p. Nu dng du phy trn u ch tn s allele th h con, ta c: p = pc; pc = (pc + p) T y xc nh c mc chnh lch hay l hiu s gia cc tn s allele ca hai gii: pc p = (p + pc) - pc = (pc - p) Nh vy, s phn b cc allele gia hai gii c s giao ng theo quy lut sau: C sau mt th h, mc chnh lch gim i mt na v qun th tin dn n trng thi cn bng cho n khi cc tn s gene hai gii l cn bng nhau, ngha l pc = p = . V d: Theo kt qu mt mu nghin cu trn mo Lun n (Searle, 1949; trong Falconer 1989) cho thy trong s 338 mo ci c 277 con lng en (BB), 54 con th khm (BO) v 7 con lng da cam (OO), v trong s 353 mo c c 311 en (B) v 42 da cam (O). Tnh trng ny tun theo quy lut di truyn kin kt vi gii tnh nh cp trc y. kim tra xem qun th c trng thi cn bng hay khng, trc tin ta hy xem liu c bng chng no v s giao phi ngu nhin? Php th u tin l xem tn s allele hai gii c ging nhau khng. Tnh ton c th cho thy cc tn s gene hai gii khc nhau khng ng k. - gii ci: f(B) = pc = (2 x 277 ) + 54/( 2 x 338 ) = 0,8994 f(O) = qc = (2 x 7 ) + 54/( 2 x 338 ) = 0,1006 - gii c: p = 311/353 = 0,881 q = 42/353 = 0,119. T tn s cc allele gii ci, ta tnh c s c th k vng ca mi kiu gene gii ny nh sau: S c th BB Kiu gene BO OO 44 Tng

Quan st K vng

277 273,2

54 61,2

7 3,4

338 338

(Khi) 2(1) = 4,6 P = 0,04 Kt qu cho thy cc s liu quan st khng ph hp lm vi s k vng m ch yu l cc s liu thp (kiu BO v OO). Tn s allele sai bit gia hai gii tnh Trn thc t, cc tn s allele nhim sc th thng hai gii tnh c th khc nhau. Khi vic p dng nguyn l H-W s nh th no? xt qun th ny, ta s dng k hiu v gi thit sau : Allele Tn s Gii c A1 A2 Tng p q 1 Gii ci p q 1

Bng cch lp bng t hp ca cc giao t, ta xc nh c cu trc di truyn ca qun th sau mt th h ngu phi: (pA1 : qA2)(pA1 : qA2) = ppA1A1 : (pq+ pq) A1A2 : qqA2A2 R rng l n khng tha mn cng thc H-W. By gi n lt tn s cc allele ca qun th ny l nh sau: f(A1) = pp+ (pq+ pq) Thay gi tr q= 1 p, ta c: f(A1) = (p + p) Tng t: f(A2) = (q +q) t f(A1) = p v f(A2) = q , khi cu trc di truyn qun th th h tip theo s tho mn cng thc H-W: p2 A1A1 : 2pqA1A2 : q2A2A2. iu chng t rng, nu nh cc tn s allele (autosome) khi u l khc nhau hai gii, th chng s c san bng ch sau mt th h ngu phi v qun th t trng thi cn bng sau hai th h. V d: Mt qun th khi u c tn s cc allele A v a hai gii nh sau: p = 0,8; q= 0,2; p = 0,4; v q = 0,6. Nu nh ngu phi xy ra, th th h th nht c tn s cc kiu gene l: 0,32AA : 0,56Aa : 0,12aa. 45

V tn s cn bng ca mi allele lc nh sau: p = (0,8 + 0.4) = 0,32 + (0,56) = 0,6 q = (0,2 + 0,6) = 0,12 + (0,56) = 0,4 th h th hai, qun th t cn bng vi cc tn s H-W l: 0,36AA : 0,48Aa : 0,16aa

7. Nhng ng dng ca nguyn l Hardy-Weinberg


1. Xc nh tn s ca allele ln Chng hn, bch tng (albinism) ngi l tnh trng ln tng i him gp. Nu nh k hiuA cho allele xc nh sc t bnh thng v a cho allele bch tng, kiu gene ca ngi b bch tng l aa, trong khi nhng ngi bnh thng th hoc l AA hoc l Aa. Gi s trong mt qun th ngi tn s ca nhng ngi b bch tng l 1/10.000. Theo nguyn l H-W, tn s ca th ng hp ln l q2 = 0,0001 nn q = = = 0,01. Do tn s ca allele A l: p = 1- 0,01 = 0,99 (v p + q = 1). T y xc nh c tn s ca hai kiu gene cn li: f(AA) = p2 = (0,99)2 = 0,9801 (hay ~98%) f(Aa) = 2pq = 2(0,99)(0,01) = 0,0198 (hay ~ 2%) 2. Xc nh tn s ca cc "th mang" (carrier) Mt iu l th ca nguyn l H-W l ch, cc allele him ni chung l cc allele ln gy bnh trong qun th thng n tng trong cc th d hp (gi l th mang) v ta c th tnh c tn s ca chng nu nh bit c tn s allele. Nu cho rng c s cn bng H-W th tn s ca cc th mang allele bnh ln trong qun th c c tnh l H = 2q(1-q). V tn s ca cc th d hp trong s nhng c th bnh thng, k hiu H, l t s f(Aa)/f(AA+Aa), trong a l allele ln vi tn s q. Khi :

H =

V d: Vi trng hp bch tng ni trn, tn s ca aa l 0,0001 th tn s (Aa) l 0,02 , ngha l trong 50 ngi c mt ngi mang allele bch tng., tn s allele a nhng ngi d hp l 0,02: 2 = 0,01 trong khi nhng ngi bch tng l 0,0001, nh vy allele a nhng ngi d hp c nhiu hn nhng ngi bch tng khong 100 ln (0,01 : 0,0001 = 100 ). Tng qut, nu tn s ca mt allele ln trong qun th l q, th s c pq allele ln trong cc th d hp v q2 allele ln trong cc th ng hp. T s y l pq/q2 = p/q, v nu nh q rt b th t s s xp x 1/q. Nh vy, khi tn s ca mt allele ln cng thp bao nhiu, th t l ca allele trong cc th d hp cng cao by nhiu. Tng t, bnh ri lon chuyn ho c tn l phenylxetn-niu (phenylketonuria = PKU) do mt allele ln n, c 5 trng hp b bnh trong s 55.715 b. Tn s cc th ng hp ln xp x 1/11.000 hay 90 x 10-6. Tn s allele ln l q = = 0,0095. Tn s cc th d hp trong c

46

qun th (H = 2pq) v trong s cc th bnh thng (H= 2q/1+q) u xp x bng 0,019. Nh vy khong 2% s ngi bnh thng l c mang mm bnh PKU. 3. Kho st trng thi cn bng ca qun th T nguyn l H-W v cc h qu rt ra c trn cho php ta vn dng xc nh xem cu trc di truyn ca mt qun th c trng thi cn bng H-W hay khng. Di y ch lc trnh vi phng php tng qut i vi mt qun th ngu phi (Hong Trng Phn 2001), vi cc gi thit v k hiu c cp. Theo nguyn l H-W, cc tn s kiu gene i con c xc nh nh tn s allele b m chng. Nu qun th trng thi cn bng, tn s cc allele s nh nhau c hai th h, v vy tn s allele quan st c i con c th dng y nh th n l tn s allele i b m tnh cc tn s kiu gene k vng theo nguyn l H-W. Nh vy, v nguyn tc, mt qun th c coi l trng thi cn bng nu nh n tha mn mt trong nhng kh nng sau y; ngc li, qun th khng trng thi cn bng. (1) Cc tn s kiu gene quan st c (P, H v Q) phi xp x bng cc tn s k vng tng ng (p2, 2pq v q2), ngha l thnh phn di truyn ca qun th phi tho mn cng thc H-W. V mt s lng, qun th c coi l trng thi cn bng nu nh c s ph hp st sao gia cc con s quan st v k vng i vi mi kiu gene, ngha l: N11 p2N ; N12 2pqN; v N22 q2N. (2) Tn s th d hp quan st phi xp x bng tn s k vng (H2pq), ngha l: p.q H hay P.Q (H)2 (3) Tn s ca mi kiu gene quan st c gia hai th h lin tip l tng ng nhau. Nu ta gi tn s ca cc kiu gene A1A1, A1A2 v A2A2 tng ng th h th nht l P1, H1v Q1 v th h th hai l P2, H2 v Q2, lc : P1 P2 ; H1 H2; v Q1 Q2. (4) i vi trng hp kho st cn bng H-W hoc giao phi ngu nhin da trn tn s giao phi hoc s lng cp giao phi ca cc kiu giao phi khc nhau, ta c th so snh nh sau: Kiu giao phi Tn s Quan st K vng A1A1 x A1A1 x A1A1 x A1A2 x A1A2 x A2A2 x A1A1 A1A2 A2A2 A1A2 A2A2 A2A2 P2 p2.p2 2PH 2(p2) (2pq) 2(p2)(2pq) 2PQ 2(p2)(q2) 2(p2)(q2) H2 (2pq)(2pq) (2pq)(2pq) 2QH 2(2pq)(q2) 2(2pq)(q2) Q2 q2.q2 q2.q2 1 1 1 S lng Quan st P2.N/2 2P.H.N/2 (2pq)N/2 2P.Q.N/2 (q2)N/2 H2.N/2 (2pq)N/2 2Q.H.N/2 (q2)N/2 Q2.N/2 N/2 K vng p2.p2.N/2 2(p2) 2(p2) (2pq) 2(2pq) q2.q2.N/2 N/2

Tng

(5) Phng php Khi-bnh phng (Chi-square method) Khi so snh gia cc s liu quan st v k vng thng c th c s sai lch khng ng k hoc ng k. V ranh gii phn nh gia chng l khng r rng khin ta kh m khng nh qun th trng thi cn bng hoc khng. Trong trng hp , ta phi s dng phng php x2

47

V d: kho st trng thi cn bng H-W, ta hy xt qun th ngi M da trng gc u cho bng 12.1. T s ngi mang cc nhm mu M, MN vN tng ng l 1.787; 3.039; v 1.303 (vi N = 6.129), ta tnh c tn s ca cc allele M v N l p v q nh sau: p = 1.787 + 1/2(3.039) = 0,539 v q = 1 - p = 0,461. T y tnh c tn s k vng ca cc kiu gene: MM p2 = (0,539)2 = 0,292 MN 2pq = 2(0,539)(0,461) = 0,497 NN q2 = (0,461)2 = 0,211 V s c th k vng ca chng: MM p2 N = 0,292 6.129 = 1.787,2 MN 2pq N = 0,497 6.129 = 3.044,9 NN q2 N = 0,211 6.129 = 1.296,9 So snh cc s liu quan st v k vng v tng kiu gene ta thy c s ph hp st sao, chng t qun th trng thi cn bng H-W. Tht vy, nu kim tra bng trc nghim (khi) x2, ta c: (khi) x2 = + + = 0,04 2 Tra bng phn phi c ng vi P = 0,05 v 1 bc t do ta tm c tr s (khi) x2 bng 3,84. V tr s thc t l rt nh so vi tr s l thuyt, chng t gia cc s liu quan st v k vng hu nh trng khp nhau hon ton; ngha l, qun th trng thi cn bng H-W. Nguyn l Hardy-Weinbeirg Nm 1908, nh ton hc ngi Anh Godfrey H.Hardy v bc s ngi c Wilhelm Weinberg c lp chng minh rng c tn ti mt mi quan h n gin gia cc tn s allele v cc tn s kiu gene m ngy nay ta gi l nh lut hay nguyn l Hardy-Weinberg (vit tt: H -W ). 1. Ni dung nguyn l H-W Trong mt qun th ngu phi kch thc ln, nu nh khng c p lc ca cc qu trnh t bin, di nhp c, bin ng di truyn v chn lc, th tn s cc allele c duy tr n nh t th h ny sang th h khc v tn s cc kiu gene (ca mt gene gm hai allele khc nhau) l mt hm nh thc ca cc tn s allele, c biu din bng cng thc sau: ( p + q )2 = p2 + 2pq + q2 = 1 2. Chng minh mt qun th Mendel, xt mt locus autosome gm hai allele A1 v A2 c tn s nh nhau c hai gii c v ci. K hiu p v q cho cc tn s allele ni trn (p + q =1). Cng gi thit rng cc c th c v ci bt cp ngu nhin, ngha l cc giao t c v ci gp g nhau mt cch ngu nhin trong s hnh thnh cc hp t. Khi tn s ca mt kiu gene no chnh l bng tch ca cc tn s hai allele tng ng. Xc sut mt c th c kiu gene A1A1 l bng xc sut (p) ca allele A1 nhn t m nhn vi xc sut (p) ca allele A1 nhn t b, hay p.p = p2. Tng t, xc sut m mt c th c kiu gene A2A2 l q2. Kiu gene A1A2c th xut hin theo hai cch: A1 t m v A2 t b vi tn s

48

l pq, hoc A2 t m v A1 t b cng vi tn s pq; v vy tn s ca A1A2 l pq + pq = 2pq (Bng 12.2). iu chng minh trn c tm tt nh sau: * Qun th ban u c 3 kiu gene : A1A1 A1A2 A2A2 Tng Tn s cc kiu gene : Tn s cc allele : P p = P + H ; q = Q + H H Q 1

* Qun th th h th nht sau ngu phi c : Tn s cc kiu gene = (p + q)2 = p2 + 2pq + q2 1 Tn s cc allele: f(A1) = p2 + (2pq) = p(p+q) = p f(A2) = q2 + (2pq) = q(p+q) = q Nhn xt: T chng minh trn cho thy cc tn s allele th h con ging ht th h ban u, ngha l f(A1) = p v f(A2) = q. Do , cc tn s kiu gene th h tip theo vn l p2, 2pq v q2(ging nh th h th nht sau ngu phi). iu chng t rng cc tn s kiu gene t c cn bng ch sau mt th h ngu phi. Trng thi n nh v thnh phn di truyn c phn nh bng cng thc H-W nh vy c gi l cn bng H-W (Hardy-Weinberg equilibrium). Bng 2 Cc tn s H-W sinh ra t s kt hp ngu nhin cc giao t Tn s giao t ci p(A1) p2(A1A1) pq(A1A2) q(A2) pq(A1A2) q2(A2A2)

p(A1) Tns q(A ) 2 gt c

3. Cc mnh v h qu (1) Nu nh khng c p lc ca cc qu trnh tin ho (t bin, di nhp c, bin ng di truyn v chn lc), th cc tn s allele c gi nguyn khng i t th h ny sang th h khc. y l mnh chnh ca nguyn l hay nh lut H-W. (2) Nu s giao phi l ngu nhin, th cc tn s kiu gene c quan h vi cc tn s allele bng cng thc n gin: ( p+q )2 = p2 + 2pq + q2 =1. (3) H qu 1: Bt lun cc tn s kiu gene ban u (P, H, Q) nh th no, min sao cc tn s allele hai gii l nh nhau, ch sau mt th h ngu phi cc tn s kiu gene t ti trng thi cn bng (p2, 2pq v q2). (4) H qu 2: Khi qun th trng thi cn bng th tch ca cc tn s ng hp t bng bnh phng ca mt na tn s d hp t, ngha l: p2.q2 = (2pq/2)2 Tht vy, khi qun th trng thi cn bng l tng, ta c: H = 2pq Bin i ng thc trn ta c: pq = H Bnh phng c hai v, ta c: p2.q2 = (H)2, trong H = 2pq. Nh vy ng thc ny cho thy mi tng quan gia cc thnh phn ng hp v d hp khi qun th trng thi cn bng l tng. (5) H qu 3: (i) Tn s ca cc th d hp khng vt qu 50%, v gi tr cc i ny ch xy ra khi p = q = 0,5 H = 2pq = 0,5; lc ny cc th d hp chim mt na s c th trong qun th; (ii) i vi allele him (tc c tn s thp), n chim u th trong cc th d hp ngha l, tn s th d hp cao hn nhiu so vi tn s th ng hp v allele . iu ny gy hu qu quan trng i vi hiu qu chn lc (xem thm mc 1.5.2 di y). 49

8.DU NHP GEN VA CHON LC TRONG QUAN THE p l tn s tng i ca gen A qun th nhn p = M (P - p) P l tn s tng i ca gen A qun th cho M l t l s c th nhp c - p lng bin thin v tn s alen trong qun th nhn

9. Chn lc: Loi b alen ln aa Bi tp: Nu QTGP trng thi cn bng ,xt mt gen vi tn s A=(p0); a=(q0) vi p0 + q0 = 1, h s chn lc s =1.S thay i tn s cc alen qua cc th h s nh th no?
___________________________________________________________ Chng minh S th h CL 0 1 2 3 . . . n AA p02 p12 p22 p32 . . . pn2 Aa 2p0q0 2p1q1 2p2q2 2p3q3 . . . 2pnqn q02 q12 q22 q32 . . . qn2 aa p(A) p0 p02 + p0q0 / p02+ 2p0q0 = p0 + q0 / p0 + 2q0 p12 + p1q1 / p12+ 2p1q1 = p0 + 2q0 / p0 + 3q0 p22 + p2q2 / p22+ 2p2q2 = p0 + 3q0 / p0 + 4q0 . . . p0 + nq0 / p0 + (n+1)q0 = 1+ (n-1)q0 / 1+ nq0 q(a) q0 p0q0 / p02+ 2p0q0 = q0 / p0 + 2q0 p1q1 / p12+ 2p1q1 = q0 / p0 + 3q0 p2q2 / p22+ 2p2q2 = q0 / p0 + 4q0 . . . q0 / p0 + (n+1)q0 = q0 / 1+ nq0

1. CNG THC TNG QUT V S BIN I CA TN S ALEN TRONG TRNG HP CHN LC CC ALEN LN TRONG QTNP QUA NHIU TH H Nu QTGP trng thi cn bng v tn s A=(p0); a=(q0) vi p0 + q0 = 1, h s chn lc( s =1) th : Tn s alen tri v ln sau n th h chu s chn lc l: p(A) = p0 + nq0 / p0 + (n+1)q0 = 1+ (n-1)q0 / 1+ nq0 q(a) = q0 / p0 + (n+1)q0 = q0 / 1+ nq0 * V d: Tn s alen a ban u l 0,96. Qu trnh chn lc pha lng bi din ra qua 16 th h s lm tn s alen a gim xung cn bao nhiu? Cho bit h s chn lc S = 1. GII Tn s alen ln sau 16 th h chn lc l: 50

q(a) = q0 / 1+ nq0 = 0,96 / 1 +16 x 0,96 a. CNG THC TNG QUT TNH S TH H CHU S CHN LC Cng thc tnh tn s alen trong trng hp gi tr thch nghi ca cc loi kiu gen l khng nh nhau. th h xut pht, tn s ca alen a l gi tr qo. Cho rng c th c kiu gen aa khng sng st cc th h sau (1 n) v tn s alen a th h th n l qn . Xc nh s th h (n) chn lc lm gim tn s alen ny xung gi tr qn ? n = 1/qn 1/qo * V d: lm gim tn s ca alen a t 0.98 xung 0.04 ch do tc ng ca chn lc pha lng bi th cn bao nhiu th h. bit khng c nh hng ca t bin v cc yu t khc ngoi chn lc v h s chn lc i vi KH ln l S = 1. GII Ta hiu l qu trnh CL y xy ra trong QT ngu phi c s cn bng. Gi tn s alen ln th h ban u l q0 , th h n l qn Ta c: n = 1/qn 1/q0 = 1/0,04 1 / 0,98 24 Vy s th h chn lc: n = 24 b GA TR CHN LC (MC PH HP) Mt n v o lin quan l h s chn lc (selection coefficient), c k hiy bng s, v c nh ngha l s = 1 w. H s chn lc o Hs chn lc o mc gim bt ph hp ca mt kiu gene. VD 1: Gi s mi th h cc kiu gene AA v Aa u sinh c 100 con, cn th ng hp ln sinh c 80 con; nu ta coi ph hp ca cc c th mang allele tri l 1, th ph hp ca cc th ng hp ln l 0,8. Hiu s ca cc tr s ph hp ny chnh l h s chn lc (s), v trong trng hp ny s = 1 0,8 = 0,2. Nu nh cc kiu gene c kh nng sng st v sinh sn nh nhau th s = 0; nu mt kiu gene no gy cht hoc lm bt th hon ton th s = 1. VD2: Alen A m ho mt enzim l alen tri. ng hp AA v Aa c gi tr chn lc l 1. Nu Enzim quan trng cc aa s cht ngha l gi tr chn lc =0 v h s chn lc S (aa)=1-W=1-0=1. Nu Enzim khng quan trng nhng 1 trong 100 c th aa khng sinh sn c v thiu n, th gi tr chn lc Waa ca aa l 0,99 v h s chn lc saa l 0,01. Tc bin i tn s alen a trong qun th s nhanh hn vi h s chn lc cao hn. (lu : Chn lc chng li cc alen tri cng c ngha nh chn lc u tin cho alen ln v ngc li. 1. Chn lc v t bin Chn lc c xu hng o thi cc allele c hi ra khi qun th, trong khi t bin c th to ra cc allele c hi mi. Gi s A l allele bnh thng v a l allele c hi vi tn s tng ng ca chng l p v q. Khi ph hp hay gi tr thch nghi ca cc kiu gene AA, Aa v aa tng ng l 1: 1: 1-s. Trong trng hp ny tc o thi allele a khi qun th bi chn lc s l sq2. Nu cho rng tc t bin 51

thun (A a) l u, th tc xut hin allele a mi trong qun th l up. V p 1 (do tn s a rt thp) nn c th coi up u. Vi c ch ngu phi, qun th s trng thi cn bng khi tc xut hin t bin mi bng tc o thi, ngha l u = sq2, hay khi tn s allele ln trong qun th mc q =C12DTHQT_27. Tng t, i vi allele tri, u = sp hay p = u/s. V d: Tn s mc bnh PKU tr s sinh l khang 4 trn 100.000; do q2 = 410-5. Hiu qu sinh sn ca cc bnh nhn khng c cha tr l zero, hay s = 1. Khi u = sq2 = 4 10-5. Tn s allele ny trong cc qun th ngi l q =C12DTHQT_28 = 6,310-3 v tn s ca cc th d hp l: 2pq 2q = 2(6,310-3) = 1,2610-2 iu c ngha l, trong 100 ngi c khong 1,3 ngi mang allele , mc d c 4 trong 100.000 ngi mc bnh PKU. Tn s ca allele ny c mt trong cc th d hp bng mt na ca 1,2610-2 hay 6,310-3; v tn s ca allele cc th ng hp l 4 10-5. Do vy cc allele PKU c mt trong cc th d hp nhiu hn 6,310-3 / 4 10-5 = 158 ln so vi cc th ng hp. Nh ni t u, cc allele him tn ti trong qun th hu ht cc th d hp. 2. u th d hp t Mt v d ni bt v hin tng siu tri trong cc qun th ngi l bnh thiu mu hng cu hnh lim, mt bnh ph bin chu Phi v chu . Bnh ny c lin quan n mt dng st rt do k sinh trng ph bin gy ra l Plasmodium falciparum. Allele HbS gy cht trc tui trng thnh nhng ngi ng hp t HbSHbS. Tn s allele ny c th cao hn 10% cc vng c st rt ni trn, bi v cc th d hp HbAHbS khng c s nhim st rt, trong khi cc th ng hp HbAHbA th khng c kh nng .

10. TNH GI TR THCH NGHI (t l sng st ti khi sinh sn ca mi KG)


CTDT trc khi chn lc: (F0) d AA + h Aa + r aa=1 CTDT sau khi chn lc: (F1) DAA + H Aa + R aa=1 Gi tr thch nghi (t l sng st ti khi sinh sn) ca mi KG AA=D/d Aa=H/h aa=R/r Gi tr no nh nht th chn lc chng li KG mnh nht DNG 5: L THUYT CN NH - Vn gen= tt c cc alen (TS Alen, TS KG) c trng ca QT - Cu trc di truyn= TS KG=TPKG

CHNG 4: UNG DUNG DI TRUYEN HOC VAO CHON GIONG A/ H S DI TRUYN S2A phng sai di truyn S2A h2 = S2 S2P bin d kiu hnh
P

h cao: t chu nh hng ca MT CL hng lot l tt h thp: Chu nh hng ca MT CL c th

TNH S DNG THUN U TH LAI 52

CHNG 5: DI TRUYN HC NGI; BI 27+28+29+30 A/ H S THNG MINH IQ - IQ=[ (tui tr tu) : (tui sinh hc) ] x 100 - Ngi Bthng: 70-130, ngi km pht trin 45-70; khuyt tt <45 VD: a tr 6 tui tr li c cu hi tr 7 tui => IQ= (7:6) x 100= 117 PHN VI/ CHNG 1+2+3: TIN HO; BI 32+33+34+35+36+37+38+39+40+41+42+43+44+45 BI 37+38: CC NHN T TIN HO- CHN LC T NHIN, T BIN * p lc ca t bin: - Trng hp xy ra t bin thun A t bin thnh a vi tn s l u th tn s alen A sau n th h s l: Pn = [Po(1 u)n] hoc Pn= P0.e-un Po l tn s t bin ban u ca alen A - Trng hp xy ra c t bin thun (u) v t bin nghch (v) p= v/(u+v) q= u/(u+v) A t bin thnh a vi tn s u a t bin thnh A vi tn s v Nu u = v hoc u = v = 0 th trng thi cn bng ca cc alen khng thay i. Nu v = 0 v u > 0 th alen A c th do p lc t bin m cui cng b loi thi khi qun th. Tn s Pn ca gen A sau n i so vi tn s Po khi u c th tnh theo cng thc: Pn = Po(1 u)n * p lc ca chn lc: H s chn lc S ni ln cng chn lc, a`o thi nhng kiu gen khng c li, km thch nghi. Nu 1 gen no chu cng chn lc S th gi tr thch ng n ca kiu gen l: W=1-S

PHN VII/ SINH THI HC


CHNG 1+2+3: C TH V MI TRNG; QUN TH, QUN X A/ TNG NHIT HU HIU Tng nhit hu hiu (S) + Mi loi sinh vt c mt yu cu nht nh v lng nhit (tng nhit) hon thnh mt giai on pht trin hay mt chu k pht trin gi l tng nhit hu hiu (/ngy) tng ng. + Tng nhit hu hiu l hng s nhit cn cho 1 chu k (hay mt giai on) pht trin ca mt ng vt bin nhit. Tng nhit hu hiu c tnh bng cng thc:S = (T-C).D T: nhit mi trng D: thi gian pht trin C: nhit ngng pht trin + C khng i trong cng mt loi nn tng nhit hu hiu bng nhau: S = (T1 C).D1 = (T2 C).D2 = (T3 C).D3... B/ PHONG PH D=ni x 100/N (D: phong ph %, ni s c th ca loi i, N: s lng c th ca tt c cc loi C/ KCH THC QUN TH

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Kch thc ca qun th trong mt khng gian v mt thi gian no c din t theo cng thc tng qut sau: Nt = N0 + B - D + I - E Trong : Nt : S lng c th ca qun th thi im t N0 B: D: I: E: : S lng c th ca qun th ban u, t = 0 S c th do qun th sinh ra trong khong thi gian t t0 n t S c th ca qun th b cht trong khong thi gian t t0 n t S c th nhp c vo qun th trong khong thi gian t t0 n t S c th di c khi qun th trong khong thi gian t t0 n t.

Trong cng thc trn, bn thn mi mt s hng cng mang nhng thuc tnh ring, c trng cho loi v bin i mt cch thch nghi vi s bin ng ca cc yu t mi trng. mt s qun th sinh vt c nh nh thc vt bc cao, trong qu trnh kho st kch thc qun th ngi ta thng b qua hai thng s nhp c v di c. D/ MT i vi qun th vi sinh vt: m s lng khun lc trong mt th tch mi trng nui cy xc nh.

Thc vt ni (phytoplankton), ng vt ni (zooplankton): m s lng c th trong mt th tch nc xc nh.


Thc vt, ng vt y (t di chuyn): xc nh s lng trn tiu chun.

C trong vc nc: nh du c th, bt li, t tm ra kch thc ca qun th, suy ra mt . Cng thc:

(Petersent, 1896) hoc (Seber 1982). Trong :


N: S lng c th ca qun th ti thi im nh du M: S c th c nh du ca ln thu mu th nht C: S c th c nh du ca ln thu mu th hai R: S c th c nh du xut hin ln thu mu th hai

ng vt ln: Quan st trc tip hoc gin tip: m t (chim), du chn (trn ng di kim n), s con b mc by... E/ MC T VONG Mc t vong l s lng c th ca qun th b cht trong mt khong thi gian no . Nu s lng ban u ca qun th l N0, sau khong thi gian t th s lng c th t vong l N. Tc 54

t vong trung bnh ca qun th c tnh l N/ t. Nu tc t vong c tnh theo mi c th trong qun th th tc c gi l tc t vong ring tc thi ( k hiu l d) vi cng thc: d = N : N.t Nhng nguyn nhn gy ra t vong do: - Cht v gi - Cht v b vt d n, con ngi khai thc - Cht v bnh tt (k sinh) - Cht v nhng bin ng tht thng ca iu kin mi trng v sinh (bo, lt, chy, rt m, ng t, ni la...) v mi trng hu sinh (ngun thc n b cn kit) vt khi ngng sinh thi ca loi. F/ MC SINH SN CA QUN TH KN: Mc sinh sn ca qun th l s lng con c qun th sinh ra trong mt khong thi gian xc nh. Qun th c s lng ban u l Nt0, sau khong thi gian t (t t0 n t1) s lng qun th l Nt1, s lng con mi sinh l N = Nt1 - Nt0. Tc sinh sn ca qun th theo thi gian s l N/t. Nu tc tnh trn mi c th ca qun th ta c tc sinh sn ring tc thi (k hiu l b) v: b = N : N.t Ngi ta cng hay dng khi nim tc sinh sn nguyn hay tc ti sn xut c bn (k hiu R0) tnh cc c th c sinh ra theo mt con ci trong mt nhm tui no vi: R0 = lx. mx lx: mc sng st ring, tc l s c th trong mt tp hp ca mt nhm tui thuc qun th sng st n cui khong thi gian xc nh; mx: sc sinh sn ring ca nhm tui x. C ba c trng c bn xc nh mc sinh ca qun th: + S lng trng hoc con non sau mi ln sinh. + Thi gian gia hai ln sinh. + Tui bt u tham gia sinh sn G/ MC SNG ST Ss= 1-D 1 l kch thc qun th D mc t vong H/ S TNG TRNG CA QUN TH S tng trng, trc ht ph thuc vo t l sinh sn (b) v t l t vong (d) trong mi tng quan: r =b-d r l h s hay mc tng trng ring tc thi ca qun th, tc l s lng gia tng trn n v thi gian v trn mt c th. Nu r > 0 (b > d) qun th pht trin (tng s lng), r = 0 (b = d) qun th n nh, cn r < 0 (b < d) qun th suy gim s lng. a/ mi trng l tng: T cc ch s ny ta c th vit: N/ t=(b-d).N hay N/ t=r.N

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N (hay dN): mc tng trng, t (hay dt)khong thi gian, N s lng ca QT, r h s hay tc tng trng r = dN/Ndt hay rN = dN/dt (1) y l phng trnh vi phn th hin s tng trng s lng s lng ca qun th trong iu kin khng c s gii hn ca mi trng. Ly tch phn ng 2 v ca phng trnh (1) ta c: Nt= N0ert (2) y: Nt v N0 l s lng ca qun th thi im tng ng t v t0, e - c s logarit t nhin, t thi gian T phng trnh 2 ly logarit ca c 2 v ta c: r = (LnNt LnN0)/(t t0) b/ Mi trng c gii hn: c th hin di dng mt phng trnh sau: dN/dt = rN(K-N)/K = rN - r N2/ K = rN (1- N/K) hoc: N = K/(1+e) rt hoc N = Ner(1-N/K)t r - tc tng trng ring tc thi; N - s lng c th; K - s lng ti a qun th c th t c hay l tim cn trn; e - c s logarit t nhin a - hng s tch phn xc nh v tr bt u ca ng cong trn trc to ; v mt s lng a = (K -N)/ N khi t = 0. Gi tr 1 - N/K ch ra cc kh nng i khng ca mi trng ln s tng trng s lng ca qun th. V d: v s tng trng qun th trong iu kin l thuyt v iu kin sc ti ca mi trng. Gi s c mt qun th vi 100 c th ban u, mi c th c kh nng b sung trung bnh 0,5 c th trong mt khong thi gian t. Chng ta xt s tng trng qun th sau 1 khong thi gian trong iu kin l thuyt v iu kin sc ti mi trng l 1000 c th.

Nu khng c s i khng ca mi trng th r => rmax tc l th nng sinh hc ca loi. Nhng loi c rmax ln thng c s lng ng, kch thc nh, sinh sn nhanh v ch yu chu s tc ng ca mi trng v sinh (rt m, l lt, chy...), cn nhng loi c rmax nh (ng vt bc cao chng hn) th c s lng t, tui th cao, sc sinh sn thp, kh nng khi phc s lng km v chu nh hng ch yu ca cc yu t mi trng hu sinh (bnh tt, b k sinh, b sn bt...) I/ THNH PHN TUI TRONG QUN TH Khi xp cc nhm tui ny k tip ln nhau t nhm tui I n nhm tui III, cng tng t nh khi xp cc th h ta c thp tui, nhng y cho php nh gi xu th pht trin s lng ca qun th cng nh mt s cc ngha khc.

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CHNG 4. H SINH THI V SINH QUYN A/ CHUI, LI THC N V BC DINH DNG Chui thc n tng qut c dng: SVSX SVTT bc 1 SVTT bc 2 SVTT bc 3 ... SV phn hu

- Trong h sinh thi c hai loi chui thc n: + SV t dngV n SV t dng V n tht cc cp. + Mn b SV V n mn b SV V n tht cc cp.
- Li thc n: Tng hp nhng chui thc n c quan h vi nhau trong h sinh thi. Mi loi trong qun x khng ch lin h vi mt chui thc n m c th lin h vi nhiu chui thc n. - Bc dinh dng: Bao gm nhng mt xch thc n trong cng mt nhm sp xp theo cc thnh phn ca cng mt chui thc n bao gm SVSX, SVTT bc 1, SVTT bc 2, ... B/ HNH THP SINH THI V NNG SUT SINH HC

57

Nng sut Cc h sinh thi c 2 loi nng sut: Nng sut s cp: l nng sut ca sinh vt sn xut Nng sut th cp: l nng sut ca sinh vt tiu th Nng sut c tnh l: Gam cht kh/m/ngy + Hiu sut sinh thi Eff (H) = Ci+1. 100%/Ci (eff: Hiu sut sinh thi, Ci bc dinh dng th i, Ci+1 bc dinh dng th i+1) + Sn lng sinh vt s cp PN=PG-R (PN: SL s cp tinh, PG sn lng s cp th, R phn h hp ca TV)

SINH HC 10:
A/ SINH SN VI SINH VT - Nt=N0.2n (n s th h, N0 s c th ban u, Nt s c th sau thi gian t) - hng s tc sinh trng = 1h/g - g (pht/th h)=t/n (g thi gian th h) * n= (logN-logN0)log2 (t l thi gian tnh bng pht, n l th h) B/ ATP V HIU SUT ATP

a) - Phng trnh pha sng: 12H2O + 12NADP + 18ADP + 18Pv + 60 lng t + 18H2O. - Phng trnh pha ti quang hp: 6C02 + 12NADPH2 +18ATP + 12H2O
dip lc

6O2 + 12NADPH2 + 18ATP

C6H12O6 +12NADP + 18ADP +18Pv

a) Phng trnh tng qut ca qu trnh h hp m nguyn liu l glucoz:


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C6H12O6 + 6CO2 6CO2 + 6H2O Ch s h hp (RQ) = 6/6 = 1 b) Qu trnh h hp c chia lm 3 giai on: +ng phn: To ra 2 ATP v 2 NADH +Chu trnh crep:To ra 2 ATP v 8 NADH, 2FADH2 + Chui truyn electron h hp: ( 1NADH qua chui truyn electron to 3 ATP 1FADH2 qua chui truyn electron to 2 ATP) => S phn t ATP c to ra qua chui truyn in t l: (2 x 3) + (8 x 3) + (2 x 2) = 34 ATP - Nh vy, tng s phn t ATP m t bo thu c sau khi phn gii hon ton 1 phn t glucoz l 38 ATP.
C/ DIN TCH B MT V TH TCH CA VI KHUN DNG CU - Din tch b mt: S=4. .R2 - Th tch V=4/3..R3 D/KHI BNH PHNG (2) - Lch s: Do Karl Pearson xut 1900

2= (O-E)2/E (2: Khi bnh phng; O S liu thc t; E s liu d kin theo l thuyt H0) Khi tm c 2 ngi ta so snh vi 1 bng phn phi 2 t rt ra kt lun. ng vi mc t do n xc nh theo chnh xc th gi thuyt H0 l ng. Nu 2 ln hn gi tr C (n, ) trong bng phn phi Th gi tr H0 khng ph hp VD: Kiu hnh F2 Trn, vng Trn, xanh Nhn, vng nhn, xanh O 571 157 164 68 960 E 540 180 180 60 960 (O-E)2 961 529 256 64 (O-E)2/E 1,7796 2,9389 1,4222 1,0667 7,2074

Nh vy, i chiu vi gi tr 2 = 7,815, ta thy gi tr 2 = 7,2074 thu c trong th nghim < 7,815 nn kt qu thu c trong th nghim ph hp vi quy lut phn li c lp. S sai khc gia s liu l thuyt v thc nghim l do sai st ngu nhin.

E/ GI TR TRUNG BNH X X = x1+x2+x3+.+xn/N F/ PHNG SAI (S2) V LCH CHUN S2= (xn- X )2/(n-1) Phng sai phn nh gi tr lch so vi tr s trung bnh lch chun s= S 2 phn nh s liu c th ca xi lch bao nhiu so vi tr s TB G/ Sc ht nc ca t bo trc khi t vo dung dch l:
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Ta c: Ptb = RTC -> C = Ptb/RT - cy ht c nc th Ptb > Pdd t -> Ptb > 2.5atm - Ma h : C > 2.5/RT = 2.5/ (273 + 36).0,082 Ma ng : C > 2.5/RT = 2.5/(273 + 13).0,082 C l nng dch bo H/ Phng trnh thm thu nc ca t bo. S=P-T Cc trng thi nc ca t bo. - T bo bo ha nc: P = T - T bo ho hon ton: S = P - T bo thiu bo ha nc: S > 0, P > T. - T bo mt nc do s bay hi: S = P + T
S = P - T = 1,6 0,5 = 1,1 atm

Tnh p sut thm thu theo cng thc P = R.T.C.i. P=RTCi R: Hng s kh (R=0,0821) T: Nhit tuyt i (T= 270o + to) (to: nhit lc th nghim) C: Nng dung dch tnh theo M i: H s Van-Hp biu th mc ion ho ca dung dch i = 1 + (n-1), trong : phn ly; n: s ion phn ly. i vi cht khng in gii (ng) c i=1. I/ h s h hp ca cc axit - Axit panmitic: C15H31COOH - Axit stearic : C17H35COOH - Axit sucxinic: HOOC - CH2 - CH2 - COOH - Axit malic: HOOC - CH2 -CHOH COOH H s h hp l t s gia s phn t CO2 thi ra v s phn t O2 hp th vo (RQ). C16H32O2 + 23 O2 => 16 CO2 + 16 H2O => RQ1 = 16/23 = 0,6957 C18H36O2 + 26 O2 => 18 CO2 + 18 H2O => RQ2 = 18/26 = 0,6923 C4H6O4 + 7/2 O2 => 4 CO2 + 3H2O => RQ3 = 4/3,5 = 1,1429 C4H6O5 + 3 O2 => 4 CO2 + 3 H2O => RQ4 = 4/3 = 1,3333 b) Nhn xt: Cng nguyn liu l axit: - Nu axit giu hydro v ngho oxi => RQ < 1. - Nu axit bc thp ditricacboxylic giu oxi => RQ >1

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