Zt Ngc Pum

Di truyn hc c s 1 CHNG 1. NHP MN DI TRUYN HC

I.

NH NGHA

Hc v nhng tnh cht, c im chung ca qun th truyn t th h ny sang th h khc, rng ln hn l gi c cu trc c trng ca loi. Di truyn hc nghin cu v tnh di truyn v bin d. II. LC S Quan nim xa: tnh tt x tnh tt tt. 1694: Cameraus cng trnh th nghim gii tnh thc vt. 1760: Lenneus gii thng cng trnh nghin cu gii tnh thc vt. 1793: Sprengel quan st th phn nh gi. 1823: Knight m t th nghim lai u ch yu theo i F1, F2. 1831: Brown tm thy nhanh t bo thc vt. 1848: m t c cc phn ca NST. 1859: Darwin cng b cng trnh nghin cu ngun gc cc loi. Sau 1860 c gng tm hiu s di truyn c th thc vt v a ra nhiu thuyt. Thuyt tin to: Thuyt Pangen ca Darwin cng a ra gii thch s di truyn ca con ngi. Trong c th to ra cht rt nh gi l pangen tch t trong mu kch thch t bo sinh dc to ra con ngi. Garmen lin tc Auguet weisman: sau khi th tinh trng c chia 2 phn: 1 l soma (c th) v 1 l garman (sinh dc) lin tc. Castle v Philips: ct bung trng b lng trng cy vo bung trng b lng en phi vi b c lng en lng en. C mt iu may mn l lng en l tnh tri. Qua th nghim bc b thuyt ca Lamarck. Garmen l ngi u tin a ra thuyt NST, chnh ng cng tin on c nhng c ch ca qu trnh nguyn phn v gim phn. Tinh trng v non l cu ni gia hai th h, v vy s di truyn bt buc c tinh trng v non. Tinh trng khng mang t bo vo trng nhng vn gp phn ngang vi non. 1866: Mendel cng b cng trnh tp giao thc vt. 1887: Boveri meiose. 1890: Devries, Correns v Tschermak pht hin li quy lut di truyn ca Mendel. Bateson l ngi c cng ln trong vic gii thch r hn v quy lut di truyn ca Mendel. 1901: Landstetner pht hin ra di truyn nhm mu ABO. 1

Zt Ngc Pum -

Di truyn hc c s 1

1902: Garrod pht hin ra s di truyn PKII (phenyl ketonurea), ng l cha ngnh di truyn sinh ha. 1902-1905: Cling v Wilson ghi nhn s khc bit gia NST 2 gii tnh. Cp NST ny chi phi s di truyn gii tnh. 1904-1906: Bateson v Punette bng nghin cu cc c tnh di truyn khc nhau, mt tnh trng b kim sot hn mt gen, ghi nhn s tng tc ca cc gen khc nhau trong s kim sot tnh trng khi lm th nghim trn cy u thm. 1909: Johansson cho bit s bin i kiu hnh l do 2 yu t di truyn l kiu gen v kiu hnh. Nilson Ehle: mu ca ht la m gii thch s di truyn s lng ng thi East kho st chiu di cnh hoa ca hoa thuc l bi nhiu gen (khng ging th nghim ca Mendel) di truyn s lng. 1910: Morgan v cng s nghin cu v di truyn cho (di truyn lin kt) (Mendel di truyn phn ly c lp). 1943: Avery s di truyn vi khun v DNA. 1951: Pauling v Corey cu trc c bn ca protein. 1953: Watson v Crick tm c cu trc phn t DNA l chui xon kp. 1957: Wilrin xc nh RNA thng tin. 1961: Nirenberg v Matthei xc nh c cc m di truyn. Lch s di truyn c chia lm 3 giai on:

1900-1945 (trc chin tranh th gii II): nghin cu v ging v t bo m. Sau chin tranh: nghin cu di truyn vi sinh vt, nm, vi khun, virus, sinh hc phn t. 1990-nay: nh du nghin cu v di truyn phn t trong sinh hc, y hc, ng thi ng dng kiu gen to ra cc ging cy trng vt nui, vi sinh vt ging c nng sut cao.

Xc nh mt s t kha Kin gen/(cp) gen (alen)/(alen) Kiu hnh/(cp) tnh trng (tng phn) a gen/a alen ng hp (t)/d hp/bn hp NST/nhim sc t/nhim sc cht Lin kt vi gii tnh/nh hng bi gii tnh/gii hn bi gii tnh Di truyn s lng/di truyn cht lng Di truyn/bin d/t bin ng tri/trung gian Lai phn tch/lai lui/lai ngc

Zt Ngc Pum

Di truyn hc c s 1

CHNG 2. CC QUY LUT DI TRUYN

- a gen: mt tnh trng kim sot bi nhiu gen. - a alen: kim sot tnh trng trn mt gen nhng gen ny c nhiu alen. I. QUY LUT PHN LY C LP 1. Th nghim ca Mendel i tng: u H Lan (2n = 14) 2. Lai n tnh: theo di mt tnh trng P: F1: F2: vng vng x vng , xanh xanh

Mang F1 lai phn tch: FB: 1 vng , 1 xanh

3. Lai hai tnh - Mu v ht: vng A, xanh a - Hnh dng v ht: trn B, nhn b P: F1: AABB x AaBb aabb

F2: 9/16 vng trn, 3/16 vng nhn, 3/16 xanh trn, 1/16 xanh nhn Mang F1 lai phn tch: FB: c 4 kiu hnh t l bng nhau 1 : 1 : 1 : 1 4. Lai nhiu tnh S tnh trng d hp 1 2 3 n V d: AABB: S giao t 2 22 23 2n S kiu t h p 4 42 43 4n S kiu gen 3 32 33 3n Kiu hnh 2 22 23 2n

AaBb t th phn Aabb:

Zt Ngc Pum AaBbddEeff t th phn aaBBddEeff: c , dd x dd nn dd c 1)

Di truyn hc c s 1 (Aa x Aa nn aa

5. Mt s t l phn ly kiu hnh sai khc so vi quy lut Mendel 5.1. S di truyn c tnh trng trung gian Tin hnh trn cy bng phn P: F1: F2: hoa x hoa hng 2/4 hng trng hoa trng

Mang F1 lai phn tch cho hng v trng ch khc vi quy lut Mendel v s kiu hnh nn khng cn mang lai phn tch. V d: Mt c th c 5 gen d hp, trong c 3 gen tri ln, 2 gen trung gian. F2 c kiu hnh nh th no? 3 gen tri ln 23 2 gen trung gian 32 23 x 32 = 72 AaB1B2DdE1E2 t th phn A_B1B1D_E1E2 . . . 2/4 = 5.2. Hai gen cng quy nh mt tnh trng (9 : 3 : 3 : 1)

Hnh dng mo g 9 A_B_ 3 A_bb 3 aaB_ 1 aabb 5.3. mo qu b o: tri 2 gen mo hoa hng: tri 1 gen mo ht u: tri 1 gen n ln Gen b sung (9 : 7)

Tnh trng mu hoa P: F1: hoa trng AAbb x hoa trng aaBB

hoa AaBb 4

Zt Ngc Pum F2: 9/16 , 7/16 trng

Di truyn hc c s 1

9/16 A_B_, 3/16 A_bb, 3/16 aaB_, 1/16 aabb

C hai gen u tham gia vo vic hnh thnh tnh trng

5.4. Gen kim hm (gen c ch)

Ch c 1 gen l gen cu trc tham gia hnh thnh tnh trng, gen th 2 c ch iu hnh hot ng gen cu trc, khng cho gen cu trc lm vic. V d: S di truyn ca mu lng g 1 gen cu trc C 1 gen c ch I P: F1: F2: 9 C_I_ 3 C_ii 3 ccI_ 1 ccii g lng trng CCII C: c mu I: c ch biu hin gen C x g lng trng ccii c: khng mu (mu trng) i: khng c ch

lng trng CcIi 13/16 khng mu (trng) trng (c ch) mu (tri) trng (c ch) trng (ln) , 3/16 c mu

C 3 + 9 > 9 c ch tri (12 : 3 : 1): gen tri lm nhim v c ch C 3 + 1 > 1 c ch ln (9 : 3 : 4): gen ln lm nhim v c ch Vy tm li gen c ch c cc t l: 13 : 3 12 : 3 : 1 c ch tri 9 : 3 : 4 c ch ln 2 kiu hnh: kiu hnh c ch ging kiu hnh ln 3 kiu hnh: kiu hnh c ch khc kiu hnh ln C: nu; c: vng; I: c ch 3 kiu hnh nn kiu hnh khng c mu vng 5.5. Gen gy cht A: lng vng 5 a: lng en

Tnh trng mu lng chut:

Zt Ngc Pum P: F1: vng Aa x vng Aa

Di truyn hc c s 1

2/3 lng vng Aa, 1/3 lng en aa AA gy cht

A: tnh trng mu lng v tnh trng sng cht A: tnh trng tri mu lng a: tnh trng tri sc sng

II. DI TRUYN LIN KT: To giao t tn s khng bng nhau 1. Cc th nghim ca Morgan - i tng: rui gim (2n = 8) - Cc k hiu gen theo Morgan V d: t bin thn en: gen b (black) Hoang di thn xm: gen b+ Thn xm: b+b+ v b+b, thn en: bb Hoang di mt : gen tri w+ Hoang di cnh bnh thng: gen tri vg+ Hoang di tri mt trn: gen B+ BB dt

t bin mt trng: gen ln w t bin cnh ngn: gen ln vg t bin tri mt dt: gen B B+B+ trn

B+B dt (do B tri)

2. S lin kt hon ton P: F1: F1 lai phn tch FB: thn xm, cnh bnh thng x thn en, cnh ngn

hoang di [+] thn xm, cnh bnh thng x thn en, cnh ngn

thn xm, cnh bnh thng thn en, cnh ngn

S lin kt hon ton him gp sinh vt, 2 gen lun i chung vi nhau khi 2 gen st gn nhau. Lin kt hon ton ch c th rui gim c ch to 2 gen ging b m .

Zt Ngc Pum 3. S lin kt khng hon ton P: F1: F1 FB: = 83% ging b m thn xm, cnh bnh thng x

Di truyn hc c s 1

thn en, cnh ngn

hoang di [+] thn xm, cnh bnh thng x > = 17% ti t hp

y l s lin kt khng hon ton v chng khng lun lun i chung vi nhau m c s trao i c hin tng trao i cho gia 2 NST tng ng. b+vg+ = bvg: ging b m b+vg = bvg+: ti t hp

S lin kt gia 2 gen nh nhau l nh nhau v ngc li. Gen nm c nh trn NST. Cc gen cng xa nhau th kh nng trao i cho cng ln v ngc li (2 gen cng xa li cng yu, cng lng lo).

Nu cho bit 2 gen trn 2 NST khc nhau di truyn lin kt. Cn phn ly c lp khng xc nh c th nm trn 1 NST hay 2 NST. Xc lp v tr cc gen da vo tn s trao i cho, tn s cng ln 2 gen cng cch xa nhau v ngc li. V d: Gi s c 3 gen a, b, c. Xc lp khong cch gia cc gen. 3 trng hp: A & B, B & C, xy ra ng thi 2 trao i cho A&B C trao i cho GP Abc = aBC B&C C trao i cho GP ABc = abC 2 trao i cho C trao i cho GP AbC = aBc (t nht) Khng trao i cho GP ABC = abc (nhiu nht) kiu hnh ging b m

Zt Ngc Pum gim phn to 8 loi giao t trn. - Bao nhiu % bao nhiu cM - NST khng mm do xy ra 2 trao i cho k tip 3.1. Hin tng khng ch

Di truyn hc c s 1

5 cM khng c trao i cho

[ ] [ ] [ ] [

Trc tip: khong cch A-D = cho kp Khong cch A-B = Khong cch B-D = A-D = AB + BD =
[ [ ] [

khng chnh xc v thiu trao i

] [

] [

] [

] [

] [

] [

] [

] [

] [

] [

] [

] [

chnh xc hn

Tn s trao i cho kp l thuyt = Tn s trao i cho kp thc nghim = 0,8% ( bi cho) H s trng hp (HSTH) = HSTH: 0 1 HSTH = 0 c s khng ch hon ton, khng c s trao i cho kp xy ra. HSTH = 1 khng c s khng ch xy ra

Tn s trao i cho kp thc nghim cng nh khng ch cng mnh.

3.2. Cch lp bng gen eukaryote bc thp - n bi, tt c kiu gen biu hin kiu hnh. - Vng i ngn theo di c mt th h. - Nui cy d dng. 3.2.1. Xc nh khong cch gia gen i vi tm ng C 1 gen t bin [m] Neurogoma P: [m] xanh x [+] vng 8

Zt Ngc Pum

Di truyn hc c s 1

Khng c trao i cho

4 nang t bin nm cng mt pha kt qu ca TC gi l nang tin gim C trao i cho

Zt Ngc Pum

Di truyn hc c s 1

4 nang t bin nm xen k gi l nang hu gim Khong cch ca gen n tm ng = 3.2.2. Xc nh khong cch gia cc gen - Cc gen phn ly c lp [arg] arg arg + + + + ac ac x [ac] arg arg + + (tc b t bin arg cn ac bnh thng, m ngc li) ac ac + + arg arg + + + ac + ac

71% PD -

69% NPD

95% T

Cch xc nh PD, NPD, T: theo hang ngang Ch c [arg +] v [+ ac]: ging b m PD C [arg +] v [+ ac], c thm [arg ac] v [+ +]: ging b m v trao i cho PD 10

Zt Ngc Pum

Di truyn hc c s 1

Khng c [arg +] v [+ ac] m ch c [arg ac] v [+ +]: hon ton khc b m NPD Hai gen arg v ac trn 2 NST khc nhau

R - ac = Rarg - ac =
[ ] [ ]

: tm ng

a. Khng c trao i cho gia v tr mang gen v tm ng

arg arg + +

ac ac + +

arg arg + + PD

+ + ac ac

NPD

Kiu nang PD NPD phn ly c lp Kiu nang PD > nhiu NPD lin kt

11

Zt Ngc Pum

Di truyn hc c s 1

Cch xt nang tin gim v hu gim: xt theo chiu dc, bi trn ta thy c gen arg v ac u nm v mt pha, khng c s xen k nn tt c 4 nang trn u l tin gim gen nm gn tm ng. b. C trao i cho

Hai gen t bin trn 1 NST c trao i cho

3.2.3. Cc gen lin kt P: [arg] arg arg + + + + pab pab x [pab] (paraminobenzoic) arg arg + + pab pab + + arg arg + + 71 T 12 + pab pab +

119 PD

1 NPD

Zt Ngc Pum Ta thy PD >> NPD (119 >> 1) gen lin kt

Di truyn hc c s 1

Khng trao i cho nang PD

c NPD: c 2 trao i cho ca 4 nhim sc t Rarg-pab = [ ] [ ]

Trao i cho 2 ln gia 2 si kiu nang PD Trao i cho 2 ln gia 4 si kiu nang NPD Trao i cho 1 ln gia 2 si kiu nang T Tnh khong cch ca gen = [arg +
[ ] [ ]

V d: P: Kiu nang PD/PD/PD arg arg + + + +

+]

[+

pab

thi]

T/PD/T arg + +

PD/T/T arg arg + + + +

T/T/PD arg + +

arg pab thi + + + +

+ thi pab + pab thi

arg pab + + + thi

+ pab thi + pab thi (1) 14

pab thi

+ pab thi (4) 2

(2) 54

(3) 103

13

Zt Ngc Pum T/T/T arg + + T/T/T arg + thi T/T/NPD arg + thi arg pab thi + + (7) pab + + 6 +

Di truyn hc c s 1 PD/NPD/PD arg arg + + (8) + thi + thi pab + pab + 2 NPD/T/T arg pab + arg pab thi + + (9) + + 1 + thi

arg pab thi + + thi

arg pab + + + (6) + +

+ pab + (5) 6

pab thi 3

Cch xt kiu hnh PD, NPD hay T trng hp 3 gen: xt ln lt 2 gen (cch xt 2 gen xem trc), u tin ta xt cp gen [arg +] v [+ pab], ta thy (1), (3), (8) ging b m c kiu xp l [arg +] v [+ pab], nn l PD. Sau ta xt cp [+ +] v [pab thi], cui cng ta xt cp gen [arg +] v [+ thi]. Kt qu trnh by nh trn PD/PD/PD, Ta thy arg ton tin gim gen ny nm gn tm ng. R-pab = R-thi =

Chn arg-pab chung gn nhau khc b m (NPD) Rarg - pab = Rpab - thi = Rarg - thi =
[ ] [ ]

[ ] [

[ ] [

arg + + arg + + arg + thi arg pab + arg pab thi arg pab thi + + thi + + thi + + + + pab thi + pab + + pab + Trao i cho trn 2 Trao i cho trn 3 Trao i cho trn 4 nhim sc t nhim sc t nhim sc t

14

Zt Ngc Pum 3.3. S di truyn lin kt gii tnh 3.3.1. S di truyn gii tnh Cp nhim sc th gii tnh: Ging nhau: ng nhim th Khc nhau: d nhim th XX: XX: x XY: XY:

Di truyn hc c s 1

XX XY Gen SRY quy nh vic tp ra dch hon rui gim -

chim, b st: : ZZ, : ZW

V d: t bin t bin

bb: lng c ngn, nh x x Xbb+Ybb XbbYbb+

bb+ [+]

3.3.2. S di truyn lin kt vi gii tnh t bin mt trng: w P: F1: mt trng XwXw mt Xw+Xw , x Hoang di mt : w+ mt Xw+Y

mt trng XwY

Di truyn cho F2: mt , mt trng, mt , mt trng 15

Zt Ngc Pum P: F1: F2: mt Xw+Xw+ mt Xw+Xw , x mt trng XwY

Di truyn hc c s 1

mt Xw+Y mt trng XwY, mt Xw+Y

2/4 mt Xw+Xw+, Xw+Xw,

P:

mt trng XwXw

mt Xw+Y mt XwY (1/2400)

mt trng XwXw (1/1200),

Gii thch hin tng khng tch ri nhau gia hai NST X (1909) Xw+ XwXw Xw+XwXw: siu mt O Xw+O: mt XwXwY: siu mt trng: t l X/NST thng XXY: Y X X Y: siu mt trng OY: cht
w w

XX/Y 4%

X/XY 96%

3.3.3. S khng phn ly cp NST gii tnh ngi

GP I: GP 3.4. Mt s gen lin kt vi gii tnh 3.4.1. Bnh m mu lc (Daltonism) Do 1 gen ln d nm trn NST X Tn s gen d = 0,08 XdY bnh, XdXd bnh, Xd+Y bnh thng

GP II: NP

Xd+Xd+, Xd+Xd bnh thng 16

Zt Ngc Pum Tn s bnh = 0,082 = 0,0064 3.4.2. Bnh mu kh ng (hemophilie) 3.4.3. S di truyn mu lng mo A: vng XAXA vng, XAY vng, a: en XaXa en, XaY en XAXa tam th

Di truyn hc c s 1

Gen b gii hn bi gii tnh nm trn NST A 3.4.4. Hi Gen b nh hng bi gii tnh nm trn NST B B bnh thng Kiu gen bb BB Bb b tri Hi Bnh thng Hi B tri B l n Hi Bnh thng Bnh thng b ln b tri

4. S di truyn dy alen (a alen) 4.1. S di truyn nhm mu ABO c quy nh bi 1 gen I NST s 9 IA = IB tri > IO (=i) ln Kiu hnh Nhm mu A Nhm mu B Nhm mu AB Nhm mu O Kiu gen IAIA / IAIO IBIB / IBIO IAIB IOIO Khng nguyn A B A, B Khng Khng th Khng B () Khng A () Khng Khng A, B (, )

O: cho vn nng, AB nhn vn nng 17

Zt Ngc Pum 4.2. S di truyn mu lng th

Di truyn hc c s 1

Locus C c 4 alen C+ xm > Cch xm nht > Ch trng thn > C trng hon ton ch: chiochila h: hymalaya

C 10 kiu gen (4 xm, 3 xm nht, 2 thn trng, 1 trng hon ton) 4.3. S di truyn mt ca rui gim

Locus w c 12 alen W+ > Wsat > Wco > Ww > Wap3 > Wch > We > Wbl > Wap > Wi > Wt > W di > satsuma > san h (coral) > ru nho (wine) > tri o (apricot) > cheri > son (eosin) > mu (blood) > tri o (apricot) > ng voi (ivory) > trng c (tinged) > trng (white). S biu hin tnh trng mu mt do s tng tc gia hai alen vi nhau: W+Wbl: hoang di WcoWbl: san h

5. S di truyn a gen 5.1. S di truyn a gen bng s lng - Gen kim sot tnh trng no tng. - Kiu hnh i con ging b m cng gim, n: s kiu gen. n ()n - Chu nh hng bi cc c th khc bit trong qun th - Khi s lng cc gen kim sot tnh trng cng ln dy bin thin kiu hnh tnh trng cng ln. - Chu nh hng ca mi trng rt ln. - ng vt di truyn s lng th h F1 hay F2 rt kh phn bit tng loi kiu hnh ring bit m n l mt dy phn ly bin thin lin tc. V d: P: F1: F2: 1m6 x 1m2

1m4 (t 1m3 n 1m5) 1m4 (t 1m2 n 1m4)

Dy bin thin F1 hp hn F2 v F1 chu tc ng ca mt yu t l mi trng cn F2

chu hai yu t l mi trng v kiu gen. VP = V G + V E Vi VP: kiu hnh, VG: kiu gen, VE: mi trng, VG + VE ti a = 1

Nu VG = 0 VP = VE (phng sai kiu gen bng 0) khng tin hnh chn ging do kiu gen thay i. 18

Zt Ngc Pum

Di truyn hc c s 1

Nu VE = 0 VP = VG s thay i kiu hnh hon ton ph thuc kiu gen. H s di truyn H2 = H s di truyn cng thp th s ph thuc ca kiu hnh vo s bin i ca kiu gen cng thp v ngc li. H2 = P: F1: F2: v AABB x v trng aabb H: 0 1

v hng AaBb hng trng AAbb 2 tri, hng Aabb 1 tri, hng nht aaBB 2 tri, hng aaBb 1 tri, hng nht AaBb 2 tri, hng Aabb 0 tri, trng 10 gen 21 kiu hnh (= 10 x 2 + 1)

AABB 4 tri, AaBB 3 tri, nht AABb 3 tri, nht 3 gen 7 kiu hnh

V d: Khi kho st 444 cy F2 v ta thy khng cy no c chiu di ging b m do c t nht 5 gen 6. Php th 2 6.1. So snh kt qu th nghim vi mt ch s l thuyt gi nh b thn en P: F1: F2: [vg] x [+] Kiu hnh [+] [vg] [e] [vge] S lng o 2834 920 951 287 T l phn ly 9/16 3/16 3/16 1/16 p 0,05 Tn s l thuyt = e 2808 936 936 312 [e] e thn mun

d=oe 2 = = 2,75

Bc t do: df = s kiu hnh 1 6.2. Xc sut s di truyn ca 2 tnh trng c c lp vi nhau Hai tnh trng mu mt v mu tc: kho st 1 qun th 124 ngi: 19

Zt Ngc Pum
Mu tc Mu mt

Di truyn hc c s 1 Tng s 44 47 33 124

Vng Nu en Vng Xanh 25 9 3 7 Xm 13 17 10 7 Nu 7 13 8 5 Tng s 45 39 21 19 Gi nh 2 tnh trng mu mt v mu tc di truyn c lp vi nhau e (tc vng/mt xanh) = e (tc nu/mt xanh) = 2 = = 15 = 15.96 ngi = 13,85 ngi

Df = (m 1)(n 1) = (4 1)(3 1) = 6 p 0,05 2 tnh trng di truyn lien kt ch khng c lp v p qu nh p > 0,05 p c ngha v mt thng k V d: a. 10 ln b. 100 ln 6S/4N 60S/40N

Rt ra kt lun g? Gi nh t l l 1 : 1 2 = 2 = = = = = 0,4 =4 5 = 10/2 50 = 100/2

a t l 1 : 1 v s ln th nghim t cn b s ln th nghim nhiu hn b chnh xc hn. Kt lun: Tp hp mu s lng phi ln, s lng cng ln th cng chnh cc, ti thiu 5. Phi tnh bng s lng mu c th khng quy v t l tnh.

20

Zt Ngc Pum

Di truyn hc c s 1

CHNG 3. S PHN BO V TI SINH RA DI TRUYN

I. NGUYN PHN (MITOSIS) 1. S phn chia nhn 1.1. Prophase: Thoi v sc bt u hnh thnh - Nhn dng nhim sc cht, NST bt u tho xon ti a to 1 si di. - Nhim sc cht NST (ngn li v dy ln). - Mi 1 tm ng gn trn 1 thoi v sc. 1.2. Metaphase - NST tp trung mt phng xch o, NST co li ngn nht (xon ti a) 1.3. Anaphase - C s tch i tm ng. - 1 NST 2 NST mi (ch em). - Mi 1 NST (ch em) s i v 1 cc ca t bo. - 2 NST tng ng ch ging hnh dng nhng cu trc gen khc v ngun gc khc nhau. 1.4. Telophase - S to 2 t bo mi. 2. S phn chia t bo cht - Gen nm ngoi t bo cht ch di truyn theo dng m, khng c tnh quy lut r rang - Gen nm trong nhn di truyn theo quy lut. II. GIM PHN (MEIOSIS) - C 2 giai on chnh: GP I v GP II lin tip nhau. - T bo sinh dc 2n GP I to 2 giao t n, qua GP II (NP) mi giao t n to thnh 2 giao t n, tng cng c 4 giao t n. 1. Prophase I - Si mnh (liptotene) - Tip hp (zygotene): qun xon hnh cho - Dy ln (pachytene) - Tho xon (diplotene) S hnh cho gim dn nhng khng bng khng. Nu NST xon cht qu s b t ra, c th ni li nh c hay ni nhm (trao i cho). S hnh cho lun nhiu hn trao i cho (c hnh cho cha chc c trao i cho). 2n GP n 3n GP n tam tr (3 nhm trn cng NST tng ng bt cp vi nhau) th 3n gn nh bt th - Dy ln (diakinese) 2. Metaphase I - S lng NST gim i mt na. 3. Anaphase I 21

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Mi chic trong cp NST ng dng di chuyn v 2 cc t bo. 4 t bo ti a c 4 loi giao t to thnh.

V d: 1 c th u H Lan c 2n = 14 khi gim phn c 2 cp NST c 1 trao i cho, 3 cp NST c 2 trao i cho cn 2 cp khng trao i cho. 1 cp khng trao i cho 2 loi giao t 1 trao i cho 4 loi giao t S giao t = 22 x 45 1 t bo c kiu gen th gim phn khng trao i cho 2 giao t AB v ab, gim phn c trao i cho 4 giao t AB = Ab = aB = ab V d: Gia 2 gen AB cch nhau 40 cM (40% trao i cho hay Ab = aB = 40 = AB = ab) AB = ab = 20% (khng trao i cho) AB = 20 cM 40% trao i cho 20% ti t hp + 20% giao t ging b m Cn li 60% khng trao i cho 60% giao t ging b m S phn chia t bo cht 1 t bo sinh dc 4 giao t 1 t bo sinh dc 1 giao t (3 giao t kia tiu bin) III. S TI BN DNA 1. Thi im nhn DNA Interphase: k ngh v k trung gian Hm lng DNA tng nhng s lng NST khng i, s lng NST: bao nhiu tm ng by nhiu NST.

G1: Hm lng DNA bnh thng S: Sinh tng hp G2: Hm lng DNA tng gp i G2

G1

G1

I 22

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4c 2c Gt IPM MI MII

2. Kiu nhn i DNA - NST nhn i theo nguyn tc bn bo tn. - Thi im khi u v chiu ti bn: trn 1 NST c nhiu im khi u v ti bn theo 1 chiu.

Th nghim: Cho E.coli vo mi trng c phng x yu trong 28 pht, sau chuyn qua mi trng c phng x mnh 5 pht. Ly mu ra mang in di. Chng minh c s ti bn vi khun c 1 im khi u v theo 2 chiu. IV. V. VI. CU TRC NST (SGK DI TRUYN HC PHM THNH H) NHIM SC (SGK DI TRUYN HC PHM THNH H) CHU TRNH SNG V S SINH SN HU TNH (SGK DI TRUYN HC PHM THNH H)

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CHNG 4. HIN TNG IU HA V CHUYN HA

S BIN I CHC NNG T BO L C LP VI S BIN I IU KIN 1. H thng cm ng - Khi xm nhp vo tt c cc gen ca vi khun hot ng cng lc. I. V d: Ly c th a bo, c hng t t bo u xut pht t t bo gc iu ho chui gm n quy trnh lin kt vi nhau trong mi gen s thit lp mt mnh lnh chung.

V d: nui vi khun trong mi trng glucose sau 1 thi gian c enzyme glactosidase. Khng cho glucose m l lactose, vi khun khng s dng trc tip m chuyn thnh glucose mi s dng c bng enzyme glactosidase ng lactose l cht cm ng ra glactosidase. 2. H thng c ch iu ha mc phin m

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CHNG 5. CU TRC GEN

I. S HOT NG CC GEN NEUROPORA 1. Cc t bin sinh ha - Mt kh nng tng hp aa cho n. Mun n mc c phi cung cp cc aa n cn - Thu c 10 t bin khng tng hp c adenine, vn l chng ging nhau khng? 2. Php th b sung - Cng nhm b sung khng b sung c cho nhau (ade- + ade- ade-: t bin cng v tr, ade+: t bin khc v tr) - Khc nhm b sung b sung c cho nhau (ade- + ade+ ade+) II. PHN TCH GEN THNH CC N V PH 1. Khi nim muton (t bin) - C 2 vn t bin xy ra trn ton b gen gen khng hot ng. t bin xy ra 1 sai st nh trn gen gen vn hot ng. - Th d hch: m1m2 [t bin] Lai [m1] x [m2] to dng hoang di v trao i cho ni b 1 NST gia 2 alen. Muton: 1 on nh DNA c th gm 1 hoc 1 vi nucleotide khi b t bin s lm chc nng ca gen b t bin. Trong 1 gen c nhiu muton khc nhau. 2. Khi nim cistron: php th dialen c th 2n - Th nghim v mu mt rui gim. Hoang di: mu Mu xm: nhiu gen khc nhau kim sot nu b t bin 1 gen mu xm khng to thnh [cn] mt ti ( ) x ( [st] xm thm )( )

ng dng xc lp nhng gen t bin mi tm c xem c ging nhng gen tm c trc khng. V d: Cd ( ti) x St (xm) hoang di (gen khc) hoc t bin (gen ging) Th nghim v hnh dng mt qu tram rui gim

Gen lozery (lz): mt qu trm, x x (thuc NST X) c th phn bit nhiu dng khc nhau da vo mt lzBS v lz46

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Di truyn hc c s 1

Hai t bin dng cis lai nhau kiu hnh hoang di Hai t bin dng trans trn 1 cis lai nhau kiu hnh t bin Muton b t bin lm mt chc nng, trans trn 2 cis t bin

3. Cu trc ca gen - Recon l 1 n v ti t hp trong ni b 1 cistron nhng bn thn b phn chia bi s ti t hp. - Replicon l 1 n v t ti bn gm 1 im khi u v 2 im kt thc. 26

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CHNG 6. ACID NUCLEIC V M DI TRUYN

I. T BIN GEN (= T BIN IM) 1. Thay th 1 nucleotic

t bin im lng: thay i nucleotic nhng khng thay i aa n m ha. t bin lch khung: thay i aa v thay i chc nng. t bin ngc: t bin ng im t bin 1, khc t bin c ch nhng u tr v dng hoang di. - t bin trung tnh: thay i aa nhng khng thay i chc nng ca t bin. - t bin sai ngha: thay i aa v thay i chc nng ca t bin. 2. Thm, bt 1 hoc 1 vi nucleotic [+] t bin 1 [m] t bin 2 [+] (t bin 2 xy ra ngay trn v tr t bin 1) 3. c ch t bin Met ch c m ha bi 1 codon. Cng gen: intragenic. Khc gen: intergenic.

V d: RNAlac b t bin thay i anticodon AAC UUG. Antisuppressor (As): chng c ch t bin. As gm 3 t bin

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CHNG 7. HNG DN GII BI TP PHN DI TRUYN 1

Bi 1. Theo : Ngi ph n: bnh c nhn mt di truyn t b, tt tha ngn t m d hp. C 2 tnh trng cch 2 cM khng c trao i cho ngi ph n ny nhn 50% t b, 50% t m. V 2 cM = 2% Con ca h c 1% mc c 2 bnh, 1% khng mc bnh no. Nh vy cn 98% con ca h s mc 1 trong 2 bnh.

Ch thch: gen bnh l gen tri, ngi ph n d hp, chng bnh thng. Bi 2. Theo l lai phn tch T l phn ly bnh thng l 9 : 3 : 3 : 1 T l 9 : 7 (9 : 3 : 3 : 1) T l 12 : 3 : 1 (9 : 3 : 3 : 1) T l 9 : 4 : 3 (9 : 3 : 3 : 1) T l 13 : 3 (9 : 3 : 3 : 1) T l 15 : 1 (9 : 3 : 3 : 1) 1:1:1:1 1:1:1:1 1:1:1:1 1:1:1:1 1:1:1:1 Lai phn tch l 1 : 1 : 1 : 1 1:3 2:1:1 1:2:1 3:1 3:1

Bi 3. C 2 trng hp l phn ly c lp hoc lin kt a. Di truyn c lp vi nhau phn ly c lp xt kiu hnh i con nu th nghim no c t l bng nhau TN 4 (c kiu hnh nh nhau). b. Cc gen di truyn lin kt vi nhau xt kiu hnh i con c cc t l khc nhau lin kt c 3 TN 1, 2, 4 c. C 3 gen lin kt cht ch nhau TN 3 phn ly c lp nn loi khng xt xt kiu hnh 3 TN cn li, TN no c t trao i cho nht (c bit trao i cho kp) TN 2 c 2 kiu hnh bng 0 l A-B-D- v aabbbdd (t hn so vi TN 1 v 4, y l kiu hnh ca trao i cho kp) TN 2 d. C 3 gen lin kt m 2 gen u rt gn cn gen th 3 rt xa xt c trao i cho kp, nhng c 1 gen xa nn s lng kiu hnh trao i cho kp s ln hn TN 2 l A-B-D- v aabbdd TN 4 e. C 3 gen lin kt cch nhau 1 khong kh xa v gn bng nhau t l trao i cho s ln l A-B-dd v aabbD- TN 1 f. S sp xp chnh xc ca cy m d hp t F1 dng trong cc th nghim xt gia P v trao i cho kp, gen no c s thay i l gen nm gia (TN 3 phn ly c lp nn khng xt, cy m d hp t nn xt cc alen tri v alen cn li chc chn l alen ln). 28

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Xt ci no l P xt kiu hnh no c nhiu nht. Xt trao i cho kp xt kiu hnh c t nht v t l trao i cho kp nh hn trao i cho thng. Cn li l trao i cho thng (mt ln). TN 1: P l A-B-D- v aabbdd, trao i cho kp l A-B-dd v aabbbD-. Ta thy gen D thay i ADB. TN 2: P l A-B-dd v aabbD-, trao i cho kp l A-B-D- v aabbdd. Ta thy gen D thay i ADB. TN 4: P l A-bbdd v aaB-D-, trao i cho kp l aabbdd v A-B-D-. Ta thy gen A thay i BAD.

Bi 4. Ta c 2 gen a & b (a+, b+ hoang di) t bin ln trn NST II cch nhau 20 cM trao i cho a+b = ab+ = 10% = 0,1 P = a+b+ = ab = 50% - 10% = 40% = 0,4. 2 gen c & d t bin ln (c+, d+ hoang di) trn NST III cch nhau 40 cM trao i cho c+d = cd+ = 20% = 0,2 P = c+d+ = cd = 30% = 0,3. Ta c 4 gen nn: a+b+ ab a+b ab+ ch xy ra lin kt gen hon ton nn cho 4 t l bng nhau = 25%. cho ra 42 = 16 loi giao t l c+d+ 0,4 x 0,3 = 0,12 0,4 x 0,3 = 0,12 0,1 x 0,3 = 0,03 0,1 x 0,3 = 0,03 cd 0,4 x 0,3 = 0,12 0,4 x 0,3 = 0,12 0,1 x 0,3 = 0,03 0,1 x 0,3 = 0,03 c+d 0,4 x 0,2 = 0,08 0,4 x 0,2 = 0,08 0,1 x 0,2 = 0,02 0,1 x 0,2 = 0,02 cd+ 0,4 x 0,2 = 0,08 0,4 x 0,2 = 0,08 0,1 x 0,2 = 0,02 0,1 x 0,2 = 0,02

Bi 5. Ta c F1 hoang di: + = 3/4 lai gia hoang di a+a+ v a+a (a t bin). Vy kiu gen ca cp b m ban u l: a+a+ x a+a (u hoang di). Bi 6. Theo : vg+, e+: hoang di; vg, e: t bin. em F1 lai phn tch vi vgvgee. a. Kt qu kiu hnh lai phn tch l 1 : 1 : 1 : 1 F1 phn ly c lp v d hp 2 gen F1: vg+vge+e b. Kt qu [+] v [vg] l 1 : 1 F1 phn ly c lp v d hp 1 gen vg+vg F1: vg+vge+e+ c. Kt qu [+] v [e] l 1 : 1 F1 phn ly c lp v d hp 1 gen e+e F1: vg+vg+e+e d. Kt qu ch cho kiu hnh [+] F1 thun chng vg+vg+e+e+ Kiu gen F1 l: vg+vg+e+e+, vg+vge+e, vg+vge+e+, vg+vg+e+e ton b [+]

Vy kiu gen P: vg+vge+e+ x

vg+vg+e+e (d hp 1 gen b sung nhau to F1 [+]). 29

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Bi 7. xt gen nm trn NST gii tnh hay NST thng th ta xt: Nu 2 gen nm trn NST gii tnh (X hoc Y) Nu nm trn Y F1 khng c [se] con Nu nm trn X F1 khng th phn ly t l 1 : 1 : 1 : 1 con

2 gen khng u nm trn NST gii tnh. F1 khng c gen ct gen ct nm trn NST gii tnh gen se nm trn NST thng 2 gen khng th lin kt (khc NST). cho P d hp ct v se P: Xct+Xctse+se, P c kiu hnh [se] P: Xct+Ysese Bi 8. Xt tng th nghim lai (theo cc chng [a], [b], [c], [d] u mt ta [m]) P: F1: Kiu hnh [a] th nghim 1 [a] [+] x x [+] [m]

F2: t l : l 1 : 1, t l gia [+] : [m] l 1 : 1 Di truyn cho gen nm trn NST gii tnh X theo ch c gen v [a] = v Kiu hnh [b] th nghim 2, ta thy F1 ch c kiu hnh [+] gen t bin nm trn NST thng, F2 ta thy t l phn ly l 3 : 1 c 1 gen t bin ln. (1) Kiu hnh [c] th nghim 3, F1 ch c kiu hnh [+], F2 c t l phn ly l 9 : 7 c 2 gen t bin trn 2 NST khc nhau. (2) th nghim 4 khi cho lai 2 chng t bin, do F1 ch c kiu hnh l [+] gen dng [b] s c t bin 1 gen ging 1 trong 2 gen ca [c]. (3) th nghim 5 khi cho lai 2 chng t bin, do F1 ch c kiu hnh l [m] gen dng [b] khc gen [d]. F2 c t l kiu hnh l 1 : 1 : 1 : 1 gen dng [b] v [d] nm trn cng 1 NST. (4) - Nu [b] = cd [c] = cd v cn [d] = st. - Nu [b] = st [c] = cn v cd [d] = st. Bi 9. Cy d hp t giao phn vi cy ng hp t cho ra 8 loi kiu hnh cy ng hp t c 1 loi giao t cy d hp t cho 8 loi giao t. Kiu hnh [br, f, +] v [an, +, +] c s lng nhiu nht ging P Kiu hnh [br, +, +] v [an, f, +] c s lng t nht trao i cho kp So snh kiu hnh trao i cho kp vi P ta thy f thay i gen f nm gia 30

T (1), (2), (3), (4)