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NHNG VN CN NH V AXIT NUCLEIC

TM TT L THUYT V AXIT DEOXYRIBONUCLEIC(ADN)

1) V TR : ADN l c s vt cht di truyn ca hu ht sinh vt. - cc sinh vt cha c nhn chun ( virut hoc thc khun th )ADN to thnh vt cht di truyn . - cc t bo ca sinh vt c nhn chun , ADN l thnh phn ch yu ca NST ,ngoi ra mt lng nh ADN cng tn ti mt s bo quan nh ti th ,lp th ...to thnh gen trong t bo cht . 2) CU TRC VT L : - Hu ht ADN ca cc loi sinh vt c cu trc xon kp ,gm 2 mch n xon vi nhau quanh mt trc v ngc chiu nhau . Chiu di ca mi phn t c th t n hng trm micromet .C cu trc a phn gm nhiu n phn l nucleotit. - mt s loi virut v vi khun , phn t ADN c 2 u ni lin vi nhau to thnh vng kn v c cu trc khng gian 3 chiu do s gp khc nhiu hay t . - ADN trong cc bo quan cng c dng vng . - Ngoa ADN dng B theo m hnh ca Watson - Crick cn c dng ADN khc nh : ADN dng A ,C ,Z .......... dng ADN A B C Z S cp nu ca 1 chu k xon 11 10 9.33 12 chiu v gc xon tri qua phi tri qua phi tri qua phi tri qua phi di ca 1 ng knh nu mch xon 2.56 23 Angstron Angstron 3.38 19 Angstron Angstron 3.32 19 Angstron Angstron 5.71 18 Angstron Angstron

3)CU TO HA HC - Cu to theo nguyn tt a phn gm nhiu n phn l cc nuclotit. - Mi nu c cu to gm cc thnh phn ch yu sau

+ ng deoxyribz + Axit photphoric + Mt baz nitric ( 1 trong 4 loi sau) : A ,T ,G ,X a) Lin hp dc: Mi mch n ADN gm 1 chui polinucletit ni vi nhau bi cc lin kt cng ha tr (hay lin kt photphoieste). b) Lin hp ngang : Gia 2 mch n , cc cp baz i din ni vi nhau bng cc lin kt hyrotheo nguyn tt b sung -mt baz b ca mch ny lin kt vi mt baz ln ca mch i din :A lin kt vi T bng 2 lin kt hyro ,G lin kt vi X bng 3 lin kt hyr . Nn trong 1 phn t ADN ta lun c : A = T v G = X .V t l mi quan h gia cc nu l =1

Chnh nh s sp xp m khi ta bit trnh t cc nu ca mch ny s suy ra c trnh t ca cc nu mch cn li . * Lin kt hir v lin kt ha hc tng i yu nhng v s lng nhiu nn cng to cho phn t ADN mt bn vng tng i ng thi rt linh hot c th thc hin cc chc nng sinh hc ca mnh . 4) TNH C TRNG CA ADN Tnh c trng ca ADN c th hin : -S lng ,thnh phn , trnh t sp xp cc nu -Hm lng ADN trong nhn t bo ( v d hm lng ADN trong nhn t bo ca ngi l : - T l gia cc loi nu 5)TNH KHNG C TRNG CA ADN: c th hin -Cu trc xon kp - Cu to n gin - Lin kt ha hc nh lin kt photphoieste ,hyr - Nguyn tc b sung gia cc cp baz nitric 6)TNH N NH CA ADN:

ADN c trng cho mi loi v c di truyn qua cc th h t bo v qua cc th h ca loi nh a) cp t bo do kt hp ca 3 c ch : nguyn phn , gim phn ,th tinh b) cp phn t do c ch t nhn i ca ADN - Din bin ca c ch ny sch gio khoa trnh by k v vy ch lu mt s quan trng khc +S ti bn din ra nhanh v chnh xc do s hin din ca mt s enzim c trng nh cc loi ADN- polimeraza(I , II ,III ......) ,Nucleaz( gm endocuclaz v exonuclaz). +Tc ti bn c th khc nhau ty theo loi . +Cc ADN -polimeraza ch xc tc cho qu trnh b sung theo hng t 3' n 5' ca mch khun . * IU KIN XY RA QU TRNH TNG HP ADN L -Phi c s hin din ca mt s enzim c trng nh cc loi ADN- polimeraza(I , II ,III ......) -Cn c cc enzim tham gia vo qu trnh m xon ADN l helicaz , protein SSB -Cn nng lng ATP cung cp . * MT S LOI VIRUT C C S VT CHT DI TRUYN L ARN TH ADN C SAO CHP NGC T KHUN CA ARN 7) TNH KHNG N NH CA ADN : Do cc tc nhn l ha ca mi trung ngoi hoc do cu trc gen km bn vng v nhng bin i sinh l ni bo m cu trc ADN c th b thay i to thnh cc dng t bin gen 8) VAI TR CA ADN : L ni tch ly , bo qun thng tin di truyn 9) HOT NG CA ADN : -T sao trc khi c s phn bo ( gian k ) -Phn li v t hp cng vi NST trong qu trnh phn bo . -Phin m khi c s tng hp protin trong t bo - t bin khi b tc ng ca cc tc nhn t mi trng .

10) QU TRNH NHN I ADN: 1. Thi im: ADN c nhn i vo giai on S thuc k trung gian ca chu k t bo. K trung gian c 3 giai on chnh: G1, S, G2. C th, khi t bo vt qua im R (im cui pha G1) n s bc vo S v nhn i ADN, dn n nhn i NST. 2. Nguyn liu: Cc Nucleotit cc loi : A, T, G, X; nng lng cung cp di dng ATP, h enzim sao chp. 3. Nguyn tc: - B sung. - Bn bo ton. C nhiu th nghim chng minh nguyn tc nhn i ADN (c bit l nguyn tc bn bo ton) trong 1 th nghim ni ting l ca Meselson v Stahl. Hai ng dng ng v phng x nh du ADN, sau cho vi khun cha ADN ny thc hin qu trnh nhn i ADN trong mi trng . Nh thc hin ly tm v phn tch kt qu thu c, h chng minh c c ch nhn i bn bo ton ca ADN. 4: Khi u: - Ta u bit ADN xon kh cht, v nh vy rt kh to iu kin cho cc enzim tip xc. V vy, hot ng u tin ca qu trnh l dn mch ADN nh enzim girase (1 loi enzim ADN topoisomeraza) - Sau khi dn mch, enzim helicase s ct lin kt Hidro bt u ti v tr khi u sao chp (ori) tch 2 mch ca ADN, to chc sao chp. - Chc sao chp c hnh thnh, cc phn t protein SSB (protein lin kt si n) s bm vo si ADN n ngn 2 mch ti lin kt vi nhau, gi 2 mch thng, to iu kin thun li cho h enzim hot ng. * Thng thng, mi khi tch mch ra, th ti v tr tch mch s hnh thnh 2 chc sao chp ngc chiu vi nhau. 5. Hnh thnh mch: a. Xt sinh vt nhn s: Trong qu trnh nhn i ADN c s tham gia ca rt nhiu enzim. 1 trong s nhng enzim quan trng l ADN polimeraza (ADN pol - vai tr chnh nhn s l

ADN pol III). Enzim ADN pol c 1 c tnh l ch c th b sung mch mi da trn u 3'-OH c sn. iu ny dn ti 2 c im: - ADN pol khng th t tng hp mch mi (Nhng ARN pol th khng i hi yu cu ny)=> cn 1 on mi khong 10 Nu (thng l ARN) - primer (enzim tng hp l primase - 1 loi ARN polimeraza). on mi ny c vai tr cung cp u 3'-OH cho ADN pol tng hp mch mi. Sau , on mi ny, thng, s c thay th bng 1 on ADN tng ng. - ADN pol (III) ch c th tng hp mch mi theo chiu 5'-3'. Do vy, trn mch khun chiu 3'-5' s c tng hp lin tc; cn mch 5'-3' s c tng hp gin on thnh cc on ADN ngn khong 1000 Nu (gi l on Okazaki). Tin trnh c th hiu n gin l: + Sau khi hnh thnh chc sao chp, enzim primase (ARN pol) s tng hp 1 on ARN mi. + ADN pol III ni di mch da trn on mi . Trn mch 3'-5', n tng hp lin tc, hng vo chc sao chp; trn mch 5'-3' tng hp gin on thnh cc on Okazaki, ngc hng so vi hng pht trin ca chc sao chp. + Cc on mi ny hu ht s c enzim ADN pol I ct i v thay th bng 1 on ADN tng ng. S d ni hu ht, v on mi u tin, ngoi cng ca ADN, n cn 1 enzim ring tng hp on ADN tng ng (enzim ny bn cht ging nh 1 enzim sao chp ngc). Enzim ny ch tn ti trong cc t bo gc, cha bit ha. cc t bo bit ha, gen tng hp enzim ny b kha, do vy sau mi ln nhn i, ADN li ngn i 1 on nh. iu ny lm hn ch s ln nhn i ca t bo, v cng l 1 c ch t cht ca t bo. 1 vi t bo b t bin lm m gen ny -> khng hn ch phn bo -> pht trin thnh ung th (y l 1 c ch gy ung th) + Enzim ligaza s ni cc on ADN ri li vi nhau (nhng on Okazaki vi on ADN thay th on mi...) b. sinh vt nhn thc. S nhn i sinh vt nhn thc nhn chung l ging sinh vt nhn s. Tuy nhin, c 1 vi im khc ng lu : - sinh vt nhn s ch c 1 im khi u sao chp (Ori C), nhng sinh vt nhn thc, do h gen ln, nn c rt nhiu im khi u ti bn. - sinh vt nhn thc, h enzim tham gia phc tp hn so vi nhn s. H enzim ADN pol c nhiu loi alpha, beta, gama... v c ch hot ng phc tp hn. - Nhn chung, tc nhn i sinh vt nhn s ln hn sinh vt nhn thc. 6. Hon thin:

c sinh vt nhn s v nhn thc lun c qu trnh sa sai nh h thng enzim sa sai lun r sot trn phn t ADN. Phn t ADN sau khi tng hp xong s hnh thnh cu trc n nh (cun xon, lin kt vi protein...) v c lp vi phn t ADN m. Qu trnh nhn i ADN kt thc thng dn ti qu trnh phn chia t bo. 11) Gen l g ? Cc thng tin di truyn sinh vt cn cho qu trnh sinh trng, pht trin v sinh sn nm trong phn t ADN ca n. Nhng thng tin ny nm trong trnh t nucleotit ca ADN v c t chc thnh cc gen. Mi gen thng cha thng tin tng hp mt chui polypeptit hoc mt phn t ARN c chc nng ring bit. Xt v cu trc, mi gen l mt on ADN ring bit mang trnh t baz thng m ho cho trnh t axit amin ca mt chui polypeptit. Cc gen rt khc nhau v kch thc, c th t di 100 cp n vi triu cp baz. sinh vt bc cao, cc gen hp thnh cc phn t ADN rt di nm trong cc cu trc c gi l nhim sc th. ngi c khong 30.000 - 40.000 gen phn b trn 23 cp NST, trong c 22 cp NST thng (autosome) v 1 cp NST gii tnh (X v Y). Nh vy, ngi c 24 loi NST khc nhau. Trn nhim sc th, cc gen thng nm phn tn v cch bit nhau bi cc on trnh t khng m ha. Cc on trnh t ny c gi l cc on ADN lin gen. ADN lin gen rt di, nh ngi cc gen ch chim di 30% ton b h gen. Xt mi gen, ch mt mch ca chui xon kp l mang thng tin v c gi l mch khun dng to ra phn t ARN mang trnh t b tr iu khin qu trnh tng hp chui polypeptit. Mch kia c gi l mch khng lm khun. C hai mch trn phn t ADN u c th c dng lm mch m ho cho cc gen khc nhau. Ngoi ra, ngi ta cn dng mt s thut ng khc ch mch khun v mch khng lm khun, nh mch i ngha / mch mang ngha, mch khng m ho / mch m ho. Cn ch l, mch i ngha v mch khng m ha chnh l mch khun tng hp phn t ARN. Kh nng lu gi thng tin di truyn ca ADN l rt ln. Vi mt phn t ADN c n baz s c 4n kh nng t hp trnh t baz khc nhau. Trong thc t, ch mt s lng hn ch cc trnh t mang thng tin c ch (thng tin m ha cc phn t ARN hoc protein c chc nng sinh hc). 12) Trnh t khi u phin m (promoter) l g ? S biu hin ca gen c iu khin rt cht ch. Khng phi tt c cc gen c trong ADN ca t bo u c biu hin ng thi. Nhng gen khc nhau c hot ho biu hin vo nhng thi im v nhng t bo khc nhau. Tt c cc gen c biu hin trong mt t bo s xc nh c tnh v chc nng ca t bo . V d, cc gen biu hin trong t bo c khc vi cc gen c biu hin trong t bo mu. S biu hin ca gen c iu khin bt u t mt on trnh t ADN ng trc (nm ngc dng v pha u 5) so vi on trnh t m ha c gi l trnh t khi u phin m (promoter, cn gi l trnh t khi ng). on trnh t khi ng cha trnh t c hiu c ARN polymerase v cc protein c bit gi l cc yu t phin m nhn bit gn vo trong qu trnh

phin m ca gen. Mc biu hin ca gen trong t bo c xc nh bng mc gn kt (i lc) ca ARN polymerase v cc yu t phin m vi promoter. 13. Exon v intron l g ? cc sinh vt bc cao (sinh vt nhn chun), thng tin di truyn m ho trn cc NST thng b phn ct thnh nhiu on trnh t ADN cch bit c gi l cc exon. Cc exon b ngn cch bi nhng trnh t khng mang thng tin c ch c gi l cc intron. S lng cc intron trong mt gen bin ng ln, c th t 0 n trn 50 phn on. di ca cc intron v exon cng rt bin ng, nhng cc intron thng di hn v chim phn ln trnh t ca gen. Trc khi thng tin trong gen c s dng tng hp phn t protein tng ng, th cc intron phi c ct b khi phn t ARN nh qu trnh c gi l qu trnh ct b (qu trnh hon thin phn t mARN). Trong qu trnh , cc exon c gi li v ni li vi nhau thnh mt trnh t m ho lin tc. Vic xc nh cc intron trong trnh t mt gen c th thc hin c nh cc intron in hnh c trnh t bt u l 5-GU v kt thc l AG- 3. Tuy vy, thc t ngoi nhng du hiu ny, vic ct b cc intron cn cn cc trnh t khc vng ni gia intron v exon AXIT RIBNUCLIC( ARN) 1) CU TO V CHC NNG CHUNG CA CC LOI ARN: a)Cu to chung ca ARN : Phn t ARN c cu to a phn gm nhiu n phn l cc ribnu .Mi ribnu c cu to bi 3 thnh phn chnh l : -ng riboz -Axit photphoric -1 trong 4 loi baz nitric: A ,U ,G ,X ,ngoi ra cn gp 1 s baz gi him khc nh Uridin gi , Ribtimindin , Inozin ,.... , t l baz him ARN nhiu hn ADN . * CU TRC BC 1 : phn t ARN cu to bi 1 chui poliribonuclotit ni vi nhau bi lin kt photphoieste.Cc phn t ARN thng ch l 1 chui mch n cha khong t 50 -6000 ribnu, ngoi ra mt s loi virut c ARN mch kp . * CU TRC BC 2:nhiu phn t ARN c th un cong v gp khc thnh nhng dng c bit to nn cu trc bc 2 ( tARN ) .Ngoi ra cn c cu trc bc 3. b) Phn loi ARN : - ARN di truyn : l ARN mang thng tin di truyn gp a s virus thc vt v mt s thc khun th .Dng ARN c th dng mch n hay mch kp . - ARN khng di truyn : c tng hp t ADN ,gm 3 loi :

+ARN thng tin (mARN) :c cu trc mch n kch thc khng ng nht c tng hp t cc gen cu trc hay gen iu ha v dng lm khun tng hp prtin ,gm khong t 75 -3000 ribnu. mARN chim t 5 -10% tng s ARN ca t bo . + ARN vn chuyn(tARN) : l phn t nh ch c khong t 73 -90 ribnu c cu trc bc 3 c 3 chiu .Mi phn t tARN ch lin kt tm thi vi 1 loi axit amin nht nh .C trn 60 loi tARN c pht hin .tARN c i sng tng i di ( c th qua nhiu th h t bo ). + ARN riboxom(rARN): chim ti 80% tng s ARN trong t bo v l thnh phn ch yu cu to thnh cc riboxom ngoi ra cn tm thy cc bo quan nh ti th , lp th ....c cu to t 160-13000 ribnu. 2) Gen, ARN v qu trnh phin m I. GEN: Khi nim: Gen l 1 on ca phn t ADN mang thng tin m ha cho 1 sn phm xc nh (sn phm c th l chui polipeptit hay ARN) Cu trc chung: 1 gen m ha protein c cu trc in hnh gm 3 vng: - Vng iu ho: Mang tn hiu khi ng v kim sot qu trnh phin m. - Vng m ha: Mang thng tin m ha cc a.a - Vng kt thc: Mang tn hiu kt thc phin m. Vng iu ha Vng m ha exon intron exon intron exon Vng kt thc (nhn thc)

Trong vng m ha c nhng on thc s mang thng tin m ha a.a (gi l on exon) v nhng on khng mang thng tin m ha a.a (intron). Gen c c exon v intron gi l gen phn mnh; gen ch c exon l gen khng phn mnh. Gen khng phn mnh c nhn s; gen khng phn mnh c nhn thc v vi khun c (t c cp n) Cc on exon lun m u v kt thc cho 1 gen. Nh vy c ngha l, khng phi tt c cc on ADN u l gen. Thc t, ngi ta nhn thy s lng gen/tng s ADN l rt nh, c bit l sinh vt nhn thc. Cc on ADN khng phi l gen c rt nhiu chc nng quan trng m khoa hc vn cha xc nh c ht. Trong c cc trnh t u mt, trnh t tm ng, on ADN ni gia cc gen.... II. ARN 1. Cu trc chung

- ARN (axit ribonucleic) l 1 loi axit nucleic (nh ADN), cu to t cc nguyn t C, H, O, N, P. ARN l 1 i phn t, cu to theo nguyn tc n phn m cc n phn l cc ribonucleotit (riboNu). 2. Cu trc c th 1 riboNu: Gm 3 thnh phn: - ng riboz .

(Hnh nh ch r s khc bit gia ng ca ADN v ARN) - Nhm photphat - Baz nit gm 4 loi A, U, G, X (khc vi ADN) Lin kt to mch ARN ging ADN. 3. Cc loi ARN: C rt nhiu loi ARN khc nhau, nhng tiu biu v hay gp l: - mARN: ARN thng tin: mang thng tin m ha cho a.a - tARN: ARN vn chuyn: mang a.a tham gia qu trnh dch m. - rARN: ARN riboxom: tham gia cu trc ribxom. Ngoi ra cn c ARN mch n, kp l vt cht di truyn virus, nhiu phn t ARN rt nh c chc nng iu ho, ARN c chc nng nh 1 enzim (ribozim) Mi loi ARN c cu trc, thi gian tn ti trong t bo khc nhau ph hp vi chc nng.

III. QU TRNH PHIN M 1. Khi nim: L qu trnh truyn thng tin di truyn t phn t ADN mch kp sang ARN mch n (sgk Sinh 12 nng cao). Qu trnh ny c nhiu tn gi: phin m, tng hp ARN, sao m... nh ngha nh vy khng c ngha rng tt c cc on ADN u s c phin m tr thnh ARN. Ch c gen (nh ngha pha trn) mi c phin m. Qu trnh phin m ch xy ra trn 1 mch ca gen, mch ny c gi l mch gc. 2. Yu t tham gia - Enzim: cn nhiu enzim khc nhau, v cc yu t tr gip. Vai tr chnh l ca ARN polimeraza (ARN pol) - Khun: 1 mch ca ADN. Chiu tng hp mch mi t 5'-3'. - Nguyn liu: Cc riboNu v ngun cung cp nng lng (ATP, UTP, GTP...) 3. Din bin a. M u: - ARN pol nhn bit im khi u phin m. Vic ARN pol nhn bit im khi u phin m ca 1 gen l cc k quan trng i vi s phin m ca gen. 1 khi ARN pol bm vo ADN, gn nh chc chn n s phin m. ARN pol th lun r sot dc si ADN, trong khi gen th c gen c phin m nhiu, gen phin m t. Cn bn ca s khc nhau ny l ci gi l i lc ca gen i vi ARN pol. i lc cng cao, gen cng c nhiu ARN pol chy qua, cng nhiu phn t protein c tng hp. i lc ny ph thuc vo hng lot protein, v c bit l trnh t vng iu ha ca gen. - ADN tho xon, tch mch ti v tr khi u phin m. - Cc riboNu ti v tr ADN tch mch, lin kt vi ADN mch khun theo nguyn tc b sung, c th: A (ADN) lin kt vi U mi trng (mt) T (ADN) lin kt vi A mt G (ADN) lin kt vi X mt X (ADN) lin kt vi G mt - Hnh thnh lin kt photphoieste gia cc riboNu -> to mch.

b. Ko di: - ARN pol di chuyn trn mch gc theo chiu 3'-5', c nh th, cc riboNu lin kt to thnh phn t ARN. - ARN tch dn khi mch ADN, 2 mch ADN sau khi ARN pol i qua li lin kt tr li. c. Kt thc: Nh tn hiu kt thc, ARN pol kt thc vic tng hp ARN, ri khi ADN. Phn t ARN c to ra sinh vt nhn s, qua 1 vi s ch nh c th lm khun tng hp protein. Trn thc t, sinh vt nhn s, qu trnh phin m (tng hp mARN) v qu trnh dch m (tng hp protein) gn nh xy ra ng thi. Cn sinh vt nhn thc, do gen l gen phn mnh (c xen k exon v intron), nn phn t ARN c to ra c c on tng ng intron, exon. Phn t ny c gi l tin mARN. Tin mARN s c ct b cc intron to thnh phn t mARN trng thnh. Phn t mARN trng thnh ny mi lm khun tng hp protein. Vic ct b intron kh phc tp. Cn c nhng on trnh t c bit phc h ct intron c th nhn bit c. Do vy, nu c t bin xy ra lm thay i trnh t ny, khin phc h ct intron khng nhn ra intron, khng ct intron, u c th dn n thay i cu trc protein. V vy, khng hon ton ng khi ni rng t bin intron l khng gy hi.

Sau khi ct intron, vic sp xp li cc exon cng l vn . S sp xp khc nhau c th dn n cc phn t mARN trng thnh khc nhau, v ng nhin l quy nh cc protein khc nhau. y l 1 hin tng c thy i vi gen quy nh tng hp khng th ngi. V vy, ch 1 lng rt nh gen nhng c th tng hp rt nhiu loi khng th khc nhau. sinh vt nhn thc, h enzim phc tp hn, c nhiu loi ARN pol tng hp tng loi mARN, tARN, rARN. Lu : Khi ni qu trnh phin m xy ra theo chiu 5'-3' mch mi, hay trn mch khun l 3'-5' khng c ngha rng mch 3'-5' ca ADN lun l mch khun. Phn t ARN pol hot ng ti n v l gen. Nu ADN c mch 1 v 2, c th i vi gen ny, mch gc l mch 1, cn gen kia th mch gc li l mch 2. Nm r c iu ny, ta c th thy, trong t bin o on NST. Nu on o cha 1 gen nguyn vn, th khng nh hng ti qu trnh phin m ca gen (b qua nh hng ca cc yu t iu ho)

a) Sinh tng hp ARN bng c ch t nhn i : -C ch ny thng gp virus ( tc l loi ARN di truyn )Phn t ARN mi c tng hp theo c ch t sao da trn mch khun l phn t ARN c vi s xc tc ca enzim ARN- replicaz b) Sinh tng hp ARN nh c ch sao m : -C ch ny xy ra loi ARN khng di truyn v dng ADN lm khun. -Din bin c k sch gio khoa lp 11 -Nm 1977 ngi ta pht hin ra sinh vt c nhn chun s m ha trn gen khng lin tc m b gin on bi nhng on khng b m ha .Trn gen c 2 loi +Exons: l phn c sao chp sang mARN +Introns :l phn khn c sao chp sang mARN -Chnh v vy s tng hp ARN c din ra rtheo 2 bc : +Trnh t ADN c sao chp nguyn vn sang ARN to thnh phn t ARN cha c chc nng tng hp prtin. +Sau cc introns trong ARN c tch ri ra v cc exons ni lin vi nhau to thnh mARN hon chnh c chc nng tng hp prtin . c)iu kin c tng hp ARN :

-Gen khi ng khng b c ch . -C s hin din ca mt s enzim c trng nh ARN -pholimeraza hot ng -C s hin din ca cc cation ha tr 2 gip cho enzim hot ng -Cn c nng lng ATP

DNG TON V C S VT CHT V C CH DI TRUYN


PHN 1 : ADN V T NHN I ADN
A.) ADN : I)Cu to chung: - Theo nguyn tc a phn gm nhiu phn t Nucleotit (Gi tt l Nu) . Mi Nucleotit gm c ng deoxyribz , Axit photphoric v mt Baz Nitric ( 1 trong 4 loi l Adenin ; Timin ; Guanin ; Xitozin ; gi tt l A ; T ; G ; X ) . Mi mch n ADN gm 1 chui polinucletit ni vi nhau bi cc lin kt cng ha tr (hay lin kt photphoieste). - Mi mt chui gm hai mch n .Gia 2 mch n, cc cp baz i din ni vi nhau bng cc lin kt hyro theo nguyn tt b sung : mt baz b ca mch ny lin kt vi mt baz ln ca mch i din. A lin kt vi T bng 2 lin kt hyro ,G lin kt vi X bng 3 lin kt hyr. II) Mt s dng ton thng gp : 1) Dng ton v s lng cc Nucleotit trong mi gen : a) Cc cng thc cn nh : - V trong phn t ADN ta lun c : Adenin ca mch ny lin kt vi Timin ca mch kia, Guanin ca mch ny lin kt vi Xitozin ca mch kia , nn : ; ( A;T;G;X l s lng 4 loi Nu trong phn t ADN).

- T ta c : - Gi

ln lt l s lng cc loi Nu trn mch th nht. ln lt l s lng cc loi Nu trn mch th hai.

Ta c => =>

- S lng Nucleotit trong phn t : - S lng Nucleotit trn mi mch = b) Cc bi tp v d: Bi tp 1 : Mt phn t ADN c s lng Nucleotit loi Xitozin l 700 v gp i s lng Nucleotit loi Timin. Tnh s cp Nucleotit trong phn t ADN ? Tm tt bi : Gii : - Tnh s Timin : => - S cp Nucleotit = Bi tp 2 : Cho phn t ADN c tt c 620 Nucleotit. S lng Adenin trn mch th nht gp 3 ln s Adenin trn mch th hai. S Xitozin trn mch th hai bng mt na s Xitozin trn mch th nht. Tnh s lng mi loi Nucleotit trn mi mch n ca phn t ADN bit rng c 50 Guanin trn mch th nht. ;

Tm tt bi : Gii : - T - M suy ngay ra => =>

=> - Mt khc => => => p s : ; ; ; =>

c) Bi tp t luyn : Bi tp 3 : Mt gen c tt c 3400 Nucleotit. Trn mch th nht, s Adenin , Timin, Guanin ln lt l 305 ; 420 ; 700. Tnh s lng mi loi Nucleotit cn li trn mi mch ca gen? 2) Dng ton v t l % cc Nucleotit : a) Cc cng thc cn nh : mch th nht. mch th hai. l t l % mi loi Nucleotit trong phn t ADN. l t l % ca mi loi Nucleotit trn mch th nht so vi l t l % ca mi loi Nucleotit trn mch th hai so vi

- D thy :

- Lu : V l t l % ca Adenin trn mi mch n so vi s lng Nu trn mi mch n ch khng phi l so vi s Nu ton phn t. Do : ; (Nu bi h cho % Adenin ca mch th nht l 30% m khng ni r l so vi s Nu mch th nht hay so vi ton phn t th bn c p dng cng thc nh trn v hiu lun l so vi mch th nht i:D). - Mt lu na : Ta lun c b) Cc bi tp v d : Bi tp 4 : Mt gen c 15% Adenin. Tnh t l % ca cc loi Nucleotit cn li trong gen ? Tm tt bi : ;

Gii : - D thy - Mt khc ta lun c : => =>

Bi tp 5 : Mt gen c tch s t l % gia 2 loi Nucleotit khng b sung l 4%. Bit rng s lng loi Adenin ln hn loi Guanin. Tm t l % tng loi Nucleotit ca gen? Tm tt bi: C th coi 2 loi khng b sung l Adenin v Guanin. =>

Gii :

=>

; Mt khc ta lun c

- Gii h : - T =>

<=> ;

Bi tp 6 : Trn mch th nht ca gen c 10% Adenin v 30% Timin. Gen c 540 Guanin. Tnh s Nucleotit ca gen ? Tm tt bi : ; ; ;

Gii : - D dng suy ra lun : => - M => c) Bi tp t luyn : Bi tp 7 : Trn mch th nht ca gen c cha A, T, G, X ln lt c t l l 20% : 40% : 15% : 25%. Tm t l tng loi nucltit ca mch th hai v t l tng loi Nucleotit ca gen ni trn ? 3) Dng ton lin quan n chiu di , khi lng , chu k xon ca gen : a) Cc cng thc cn nh : - Mi cp Nucleotit c di => Chiu di gen l => . Kt hp vi G=540

- Mi Nucleotit c khi lng l 300(dv.C) => Khi lng ca gen l

- C 10 cp Nucleotit to thnh 1 vng xon => Chu k xon (s vng xon) ca gen : b) Cc bi tp v d : Bi tp 8 : Cho 1 gen c s Nucleotit l N. Lp biu thc lin h gia chiu di v khi lng gen, gia khi lng v chu k xon v gia chiu di v chu k xon ca gen. Gii : - C T (1) (2) (3) => => <=> <=> <=> (6) (4) (5) => => (1) (2) (3)

Bi tp 9 : Mt gen c 80 vng xon. Tnh chiu di v khi lng ca gen ? Tm tt bi : ; =>

Gii : - p dng cng thc : - Vy chiu di gen l : - Khi lng gen :

Cch 2 : Dng cng thc (5) v (6) bi tp 7 l c th ra lun. Tuy nhin nu tr nh ca bn khng tt th cng khng nn nh my cng thc m ch cn tun t gii nh trn l n ri :D Bi tp 10 : Mch n th nht ca mt gen c chiu di . Hiu s gia s Guanin trn gen vi 1 loi Nucleotit no bng 10% s Nucleotit ca gen. Tnh s lng tng loi Nucleotit ca gen ? Tm tt bi : thc cht l chiu di gen) (chiu di mch n th nht

- Hiu s gia s Guanin vi 1 loi Nucleotit no : Ta c th hiu l G-A, v hiu s gia G v X l 0 (v l) . Cn hiu s gia G v T th chnh l hiu gia G v A. Vy :

Gii : -

=>

=> <=> c) Bi tp t luyn : Bi tp 11 : Mt gen di

=> Gii h :

c s Nucleotit loi Xitozin l 150.

1) Tnh khi lng v s vng xon ca gen ? 2) Xc nh s lng v t l mi loi Nucleotit ? 3) Trn mch th nht ca gen c s Timin l 450 v s Guanin l 30. Tnh s Nucleotit tng loi mi mch ? 4) Dng ton lin quan n cc loi lin kt ho hc trong gen : a) Cc cng thc cn nh : - Lin kt ho tr l lin kt gia ng v Axit Photphoric, l lin kt ni gia cc Nucleotit vi nhau. + Trn 1 mch . S Nucleotit l => S lin kt ho tr trn 1 mch :

+ Tng s lin kt ho tr ni gia cc Nucleotit trong cng mt mch l : + Trong c phn t , tng s lin kt ho tr l : - A lin kt vi T bng 2 lin kt hyro ,G lin kt vi X bng 3 lin kt hyr. Vy s lin kt Hidro l : b) Cc bi tp v d : Bi tp 12 : Mt gen c 5998 lin kt ho tr v 4050 lin kt Hidro. Tnh s lng tng loi Nucleotit trn gen ? Tm tt bi : s lin kt ho tr : s lin kt Hidro : Gii : => =>

- Gii h : c) Bi tp t luyn :

=>

Bi tp 13 : S lin kt Hidro gia 2 mch n ca phn t ADN l Phn t ADN ny c s cp Nucleotit G-X nhiu gp 2 ln s cp A-T. 1) Tnh s lng tng loi Nucleotit ca phn t ADN ?

2) Tnh khi lng , chiu di , s vng xon v s lin kt ho tr ca phn t ADN ? Bi tp 14 : Mch n th nht ca gen di v c t l Adenin:Timin:Guanin:Xitozin l 15%:30%:30%:25% . 1) Tnh t l A:T:G:X ca mch th hai ? T l tng loi Nucleotit trn gen ? 2) Tnh s lin kt Hidro v lin kt ho tr ca gen ? -----------------------------------------------------------------------------------------------------------B.) S T NHN I ADN ( T SAO , SAO CHP , TI BN ) : I) L thuyt chung : - ADN c kh nng t nhn i to thnh 2 phn t ADN con ging ht nhau v ging phn t m. ADN c sao chp theo nguyn tc b sung, nguyn tc bn bo ton v theo c ch na gin on (mt mch mi c tng hp lin tc cn mch kia c tng hp gin on. - sinh vt nhn s E.Coli : Khi bt u sao chp, phn t ADN tch ra to thnh hai mch n trong mt mch c u 3'-OH cn mch kia c u 5'-P. Enzim ADN polimeraza ch c th b sung Nucleotit vo nhm 3'_OH , do vy khi sao chp, mt mch mi da vo mch khun c u 3'_OH th c hnh thnh lin tc. Mch th hai c hnh thnh tng on theo hng ngc li, sau cc on ny c ni li vi nhau nh enzim ni. Cc on ny c gi l on Okazaki. - sinh vt nhn chun : T bo ca sinh vt nhn chun c nhiu phn t ADN l chui xon kp gm 2 mch polinucleotit c sao chp ngc chiu nhau. S sao chp ca ADN bt u t mt im trn ADN. ADN tho xon hnh thnh cc vng sao chp. S sao chp ADN din ra nhiu vng sao chp v trn nhiu phn t ADN. II) Mt s dng ton thng gp : 1) S Nucleotit v tng loi Nucleotit c to thnh :

a) Cc cng thc cn nh : - Sau k t t nhn i ADN th s phn t ADN con l : - Tng s Nucleotit ca cc phn t ADN con : - Tng s mi loi Nucleotit ca cc phn t ADN con : ; - S phn t ADN con m c hai mch u mi: ADN con tn ti 2 mch ban u). - S lin kt Hidro hnh thnh : - S lin kt ha tr c hnh thnh : - Ni chung mi phn t ADN con c to ra t qu trnh t nhn i u ging phn t ADN ban u , t thnh phn tng loi Nucleotit cho n khi lng , chiu di , s vng xon , cc lin kt ho hc ..... b) Cc bi tp v d : Bi tp 15 : Mt gen t sao lin tip to ra cc gen con c tng s mch n gp 16 ln s mch n ban u ca gen. Hy xc nh s ln t nhn i ca gen ? Gii : - Tng s mch n gp 16 ln s mch n ban u => Gen ny t nhn i lin tip to ra 16 gen con. - Theo cng thc : Sau k ln t nhn i th s gen con l : => => . Vy gen t nhn i 4 ln. ; ;

(V trong s cc phn t

Bi tp 16 : Mt gen c 120 chu k xon v c 3100 lin kt Hidro. Gen ny t nhn i to thnh 2 gen con. Tnh s lng tng loi Nucleotit sau khi gen ny t nhn i. Tm tt bi : ; ; =>

Gii : - S Nucleotit ca gen ban u l :

- Sau khi gen t nhn i , tng s Nucleotit v s lin kt Hidro c hnh thnh ln lt l : 4800 v 6200.

- Ta c h : => cc loi Nucleotit sau khi gen t nhn i.

vi A' , T' , G' , X' l

Cch 2 : Ta c th tnh s lng tng loi Nucleotit ca gen ban u trc ri t ra s lng tng loi Nucleotit sau khi gen t nhn i. c) Bi tp t luyn : Bi tp 17 : Mt gen di sau nhng ln t nhn i lin tip to ra mt s gen con. Trong s gen con m c hai mch n u mi l 6 . Tnh s lin kt ho tr c hnh thnh ? Bi tp 18 : Mt gen t nhn i to thnh 2 gen con hnh thnh c 3800 lin kt Hidro. Trong s cc lin kt , lin kt Hidro ca cc cp G-X nhiu hn lin kt ca cc cp A-T l 1000. a) Tnh chiu di ca gen ban u ? b) Gen ban u t nhn i lin tip 3 t. Tnh s lng tng loi Nucleotit sau ? 2) Dng ton v nguyn liu mi trng cn cung cp cho qu trnh t nhn i:

a) Cc cng thc cn nh : - S Nucleotit mi trng cn cung cp = S Nucleotit ca cc phn t ADN con S Nucleotit ban u Vy s Nucleotit mi trng ni bo cn cung cp l : - Tng t s lng tng loi Nucleotit mi trng cn cung cp l :

- S lin kt Hidro b ph v trong qu trnh t nhn i : b) Cc bi tp v d : Bi tp 19 : Trn mt mch ca gen c 10% Timin v 30% adenin. Hy cho bit t l tng loi Nucleotit mi trng cung cp cho gen nhn i l bao nhiu? Tm tt bi : Gii : -Ta c : - M : => ;

- Trong qu trnh t nhn i, t l tng loi Nucleotit mi trng cung cp bng t l tng loi Nucleotit ca gen ban u. => T l Adenin:Timin:Guanin:Xitozin mi trng cn cung cp : 20%:20%:30%:30% Bi tp 20 : Mt gen t nhn i 3 ln . Tng s lin kt Hidro trong cc gen con l 23712 . Gen c t l ni bo cung cp ? Tm tt bi : ; . Tnh s lng tng loi Nucleotit mi trng

; =>

Gii : - S lin kt Hidro trong gen ban u l :

- Ta c h :

=>

=> S lng tng loi Nucleotit mi trng cung cp :

Bi tp 21 : Mt gen nhn i mt s ln s dng 5796 Nucleotit t do, trong c 1449 Guanin. Bit chiu di ca gen bng . - Xc nh s ln t nhn i ca gen ? - Tnh s lin kt Hidro ca gen ni trn ? Tm tt bi : ; ; => => ;

Gii : - S Nucleotit ca gen : - C : =>

=> Vy gen t nhn i 2 ln. - T l ca Guanin cung cp so vi s Nucleotit mi trng cung cp chnh l t l ca Guanin trn gen. => => S guanin trong 1 gen : . M =>

- S lin kt Hidro : c) Bi tp t luyn : Bi tp 22 : Mt gen c s Nucleotit loi Adenin l 200 v chim 20% tng s Nucleotit ca gen. Khi gen t sao 3 ln th s Nucleotit loi Guanin mi trng cn cung cp l bao nhiu ? Bi tp 23 : Mt gen c 15% Guanin nhn i 2 ln v nhn ca mi trng 1260 Adenin. Khi lng ca gen ni trn bng bao nhiu ? Bi tp 24 : Mt gen nhn i 3 ln v s dng ca mi trng 10500 Nucleotit, trong ring loi Adenin nhn ca mi trng 1575 . T l phn trm tng loi Nucleotit ca gen l bao nhiu? Bi tp 25 : Mt gen khi t nhn i thnh 2 gen con ly t mi trng 525 Timin. Tng s Nucleotit ca 2 gen con l 3000. a) Tm s Nucleotit mi loi cn dng cho qu trnh t nhn i ? b) Nu tri qua 3 ln t sao th mi trng cn cung cp bao nhiu Nucleotit mi loi ? Trong s gen con to thnh c bao nhiu gen con m c 2 mch u mi ? c) S lin kt Hidro b ph v ? S lin kt ha tr hnh thnh ?

PROTEIN_ GII M PROTEIN


I. M di truyn
1. Gii thiu Trnh t cc Nu trn gen, tng ng vi trnh t cc ribNu trn mARN quy nh trnh t cc a.a trong chui polipeptit theo 1 quy tc nht nh, c gi l m di truyn. Bng l thuyt v thc nghim, ngi ta chng minh c rng c 3 Nucleotit trn gen, tng ng l 3 riboNucleotit trn mARN quy nh 1 a.a; ta gi m di truyn l m b ba. 2.c im ca m di truyn: M di truyn l m b ba, ngha l c 3 Nu k tip m ho cho 1 a.a. M di truyn c c t 1 im xc nh v lin tc (khng chng gi ln nhau) M di truyn c tnh c hiu, tc l 1 b ba ch m ho cho 1 a.a

M di truyn c tnh thoi ho (d tha) ngha l c nhiu b ba khc nhau c th cng m ho cho 1 a.a. M di truyn c tnh ph bin, tr 1 vi ngoi l, hu ht cc loi u dng chung 1 b m di truyn. Trong 64 b ba, c 3 b ba khng m ho a.a: UAA, UAG, UGA - b ba kt thc. B ba m u l AUG, quy nh axit amin metionin (Met) sinh vt nhn thc hoc foomin metionin (f-Met) sinh vt nhn s. II. Protein: - L thnh phn cu trc bt buc ca t bo, c cu to t cc nguyn t: C,H,O,N,P, S - L i phn t cu to theo nguyn tc a phn gm nhiu n phn l cc Acid amin. C 20 loi acid amin khc nhau. T 20 loi ny c th cu to nn v s cc protein khc nhau v thnh phn, s lng, v trnh t cc acid amin, m bo tnh a dng v c th ca tng loi protein. - Cu to mi n phn gm c3 thnh phn chnh: Nhm COOH, nhm NH2 v gc R lin kt vi cacbon trung tm (C COOH v NH2 , c 1ngt H u lk vi C C ny gi l C alpha). S khc nhau v thnh phn cu trc ca nhm R chia 20 loi aicd amin lm 4 nhm: Acid, Bazo, Phn cc, Khng phn cc. Cu trc 4 bc ca phn t Protein: Bc 1: Cc n phn acid amin ca protein lin kt vi nhau bng lin kt peptit loi mt nc, to thnh chui polipeptit mch thng. Bc 2: Cu trc bc 2 l cu trc vng xon l xo u n hoc gp np beta, cc np gp v vng xon c c nh bi cc lin kt hidro gia cc acid amin gn nhau. Bc 3: Chui xon cun xp to thnh cu trc c th trong khng gian 3 chiu, to nn tnh c trng cho tng loi protein bng cc lin kt isunfua, lin kt ion, vander_van tng tnh bn vng ca phn t protein Bc 4: 2 hay nhiu chui cun xp bc 3 lin kt vi nhau to thnh phn phn t protein hon chnh, c cu hnh khng gian c trng cho tng loi protein, gip n thc hin c chc nng hon chnh. III. Vai tr ca ARN trong dch m: Cc loi ARN tham gia vo qu trnh dch m l: mARN, rARN, v tARN. mARN: l bn phin m t m gc ca gen cha ng thng tin gii m trnh t, s lng, thnh phn ca cc acid amin trong phn t protein.

tARN: l ARN vn chuyn c 2 u, 1 u mang b 3 i m v u cn li mang cc acid amin tng ng lm chc nng vn chuyn cc acid amin n mARN tng hp protein. rARN: tham gia vo thnh phn ca Riboxom, ni tng hp nn chui polipeptit. IV. Dch m: Dch m hay cn gi l gii m c thc hin ngoi t bo cht, gip t bo tng hp nn cc loi protein khc nhau tham gia vo chc nng v cu trc t bo. L thuyt c bn cn nm: Gm 2 giai on: Giai on 1: Tng hp ARN chuyn thng tin di truyn t gen sang sn phm prtin (xem phn tng hp ARN) Giai on 2: Tng hp prtin t bo cht gm 4 bc c bn: (Mt s sch chia l 2 giai on: khi u, ko di v kt thc) + Bc 1: Hot ho axit amin. Cc axit amin t do c trong bo cht c hot ho nh gn vi hp cht giu nng lng aenzintriphtphat (ATP) di tc dng ca mt s loi enzim. Sau , nh mt loi enzim c hiu khc, axit amin c hot ho li lin kt vi tARN tng ng to nn phc hp axit amin tARN (aa tARN). + Bc 2: M u chui plipeptit c s tham gia ca ribxm , b ba m u AUG(GUG sinh vt nhn s), tARN axit amin m u tin vo ribxm i m ca n khp vi m m u trn mARN theo NTBS. Kt thc giai on m u + Bc 3: Ko di chui plipeptit, tARN vn chuyn axit amin th nht tin vo ribxm i m ca n khp vi m m u ca mARN theo nguyn tc b sung. aa1 tARN ti v tr bn cnh, i m ca n khp vi m ca axit amin th nht trn mARN theo nguyn tc b sung. Enzim xc tc to thnh lin kt peptit gia axit amin m u v axit amin th nht. Ribxm dch chuyn i mt b ba trn mARN (s chuyn v) lm cho tARN m u ri khi ribxm. Tip , aa2 tARN tin vo ribxm, i m ca n khp vi m ca axit amin th hai trn mARN theo nguyn tc b sung. Lin kt peptit gia aa1 v aa2 c to thnh. S chuyn v li xy ra, v c tip tc nh vy cho n khi ribxm tip xc vi b ba tip gip vi b ba kt thc phn t chui polipeptit lc ny c cu trc aaM aa1 aa2 ... aan vn cn gn vi tARN axit amin th n. + Bc 4: Kt thc chui plipeptit, Ribxm chuyn dch sang b ba kt thc lc ny ngng qu trnh dch m 2 tiu phn ca ribxm tch nhau ra tARN, axit amin

cui cng c tch khi chui polipeptit. Mt enzim khc loi b axit amin m u gii phng chui plipeptit. Cn lu trn mi mARN cng lc c th c nhiu ribxm trt qua vi khong cch l 51 102. Ngha l trn mi mARN c th tng hp nhiu prtin cng loi. S tng hp prtin gp phn m bo cho prtin thc hin chc nng biu hin tnh trng v cung cp nguyn liu cu to nn cc bo quan va` m nhn nhiu chc nng khc nhau. Nhng im cn lu : Dch m bt u khi tARN c bit cho khi s gn vi n v nh ca roboxom, phc hp s bm vo cc trnh t nhn bit c bit ca roboxom u 5 ca mARN pha trc on m ho cho protein. Nh anticodon (b 3 i m) ca tARN-methionine kh s bt cp vi codon(b 3 m ho) xut pht AUG trn mARN, im P (P-site). Sau cc n v ln v nh gn vo nhau to thnh roboxom nguyn vn. bc kt thc, m kt thc khng c anticodon. Thay vo cc nhn t phng thch RF lm kt thc qu trnh. Mch polipeptit c NH2- v COOH hon chnh s thot ra ngoi nh nhn t phng thch .

Qu trnh dch m. sinh vt nhn thc, sau khi mARN c tng hp, hon thin, n s ri khi nhn, ra ngoi t bo cht, lm khun mu cho qu trnh dch m. sinh vt nhn s, v khng c mng nhn, nn qu trnh phin m v dch m xy ra gn nh ng thi. Trong qu trnh dch m, mARN lin kt vi riboxom. Qu trnh dch m c thc hin theo 3 bc: Hot ho a.a Di tc dng ca enzim, v s dng nng lng, 1 phn t a.a s lin kt vi 1 phn t tARN ti v tr xc nh, to thnh phc h aa tARN. Ta coi rng mi loi tARN ch lin kt vi 1 loi a.a; nhng mi loi a.a c th lin kt vi nhiu hn 1 loi tARN (tnh cht tng t vi m b ba) Dch m v hnh thnh chui polipeptit Tiu phn b ca riboxom lin kt vi mARN, sau phn t tARN mang a.a m u (Met nhn thc, f-Met nhn s) n. B ba i m trn phn t tARN s lin kt theo nguyn tc b sung vi b ba m ho trn phn t mARN. Sau , tiu

phn ln ca riboxom s lin kt, to thnh phc h mARN-riboxom, bt u qu trnh dch m. Qu trnh ny cn c s tham gia ca cc yu t khc (If-I, If-II) tARN mang a.a th nht ti v tr A (tARN mang Met v tr P c sn), trong b ba i m ca n lin kt b sung vi b ba m ho tip theo (sau v tr m u) trn mARN. Enzim xc tc hnh thnh lin kt peptit gia a.a m u v a.a th nht. Tip , riboxom dch chuyn 1 nc trn mARN, khin cc tARN dch chuyn 1 v tr: + tARN mang a.a m u -> v tr E. Lin kt gia tARN v a.a ca n b ph v, tARN ri khi riboxom. + tARN mang a.a th nht -> v tr P. + 1 tARN khc, mang a.a th 2 vo lin kt vi b ba m ho k tip trn mARN. C nh th, lin kt peptit c hnh thnh gia cc a.a theo th t nht nh. Qu trnh tip tc cho ti khi gp b ba kt thc th dng li. Cc tiu phn riboxom tch nhau v ri khi mARN, gii phng chui polipeptit mi c tng hp. Axit amin m u ri khi chui. Chui polipeptit tip tc c hon thin v to thnh phn t protein hon chnh. Poliriboxom: Trn mi phn t mARN thng c 1 s riboxom cng hot ng, ti cc v tr khc nhau, ln lt tng hp nn cc chui polipeptit ging nhau. Nh , trong 1 khong thi gian ngn, 1 lng ln protein c th c hnh thnh, p ng nhu cu ca t bo. Cc riboxom, tARN c ti s dng nhiu ln, dng tng hp nn mi loi protein trong c th. Cn cc mARN sau khi s dng thng s b phn hu. i sng ca 1 mARN cng l 1 c ch iu ho hot ng gen.

V. iu ha hot ng ca gen I. Cu trc c bn ca gen: cu trc ca gen v gen iu ho sinh vt nhn s. 1, Vng khi ng ca gen iu ho

2, Vng gen iu ho 3, Vng khi ng ca gen cu trc 4, Vng gen vn hnh 5, Vng gen cu trc Z m ho cho - galactosidase 6, Vng gen cu trc Y m ho cho - galactosidase permease 7, Vng gen cu trc Z m ho cho - galactosidase transacetylase.

II. iu ho gen sinh vt nhn s: C ch iu ho da vo tng tc ca protein iu ho vi gen O (gen vn hnh). Protein iu ho c gi l yu t km hm hay c ch c gen iu ho I tng hp: Khi mi trng khng c lactoz, yu t km hm gn vo O, ngn cn s phin m ca nhm gen cu trc, v enzim phin m khng hot ng c. Khi mi trng c lactoz, c gi l nhn t cm ng ca O lac, tc nhn ny s gn vo yu t c ch lm thay i cu hnh khng gian ca n, do n khng gn c vo gen O. Nh enzim phin m mi phin m c nhm gen cu trc tng hp enzim phn gii lactoz.

S iu ho O lac cn ph thuc vo nng glucoz trong dch bo. Khi ngun glucoz cn kit, t bo phn ng bng cch to nhu cAMP _ c xem l tn hiu ca s cn glucoz. Trong iu kin ny, cAMP kt hp vi mt s nhn t khc v lin kt vi v tr trc promoter, nh ARN polimeraz c kch ng bm vo promoter v thc hin qu trnh phin m.

III. iu ho gen sinh vt nhn chun: C ch iu ho kh phc tp do cu trc phc tp ca DNA v NST.

DNA nm trong NST c cu trc bnh xon nn trc khi phin m, NST phi tho xon. S iu ho hot ng ca gen sinh vt nhn thc qua nhiu mc iu ho khc nhau: NST tho xon, phin m, bin i sau phin m, dch m v bin i sau dch m. Cc gen iu ho sinh vt nhn chun c th nm cch rt xa gen c iu ho. S iu ho hot ng ca gen Prokaryota phn ln p li tn hiu bn ngoi, cn Eukaryot l ch yu p ng tn hiu bn trong.

BIN D DI TRUYN V C CH BIN D: T BIN GEN


A. BIN D V T BIN (Thng tin b sung sch gio khoa) I. t bin gen: 1. Nhng kin thc cn nm: a, nh ngha: t bin gen l nhng bin i nh trong cu trc ca gen thng lin quan ti mt hay mt s cp nucleotit. (t bn xy ra 1 cp nu gi chung l t bin im). b, Cc dng t bin gen: - Thay th mt cp nucleotit: Gen: ATGXATGX t bin ATGAATGX TAXTTAXG

TAXGTAXG ------------------>

- Mt mt cp nucleotit: Gen: ATGXATGX t bin ATG_ATGX TAX_TAXG

TAXGTAXG ----------------

- Thm mt cp nucleotit: Gen: ATGXATGX t bin ATGXAATGX TAXGTTAXG

TAXGTAXG ----------------

c, Nguyn nhn v c ch pht sinh t bin gen: - Nguyn nhn: + Do cc base dng him (dng h bin) kt cp sai trong nhn i DNA.

+ Do DNA b tc ng bi cc tc nhn vt l, ho hc, sinh hc ca mt trng lm thay i cu trc ca n (nh cc loi tia phng x, tia t ngoi, cc ho cht gy t bin hoc do mt s loi virut gy ri lon trong qu trnh nhn i DNA...) - C ch pht sinh t bin gen: Mi baz tn ti 2 dng cu trc c gi l tautomer. V d, adenin bnh thng mang nhm NH2 cung cp nguyn t hidro cho s bt cp b sung vi dng keto (C = O) ca timin. Khi c bin i tautomer, adenin chuyn sang cu trc him l dng imino NH s nt cp b sung vi xitozin. Timin c th chuyn sang dng enol (COH) ko cso trong DNA bnh thng v bt cp vi guanin. Kh nng bt cp sai ca baz vi tautomer ko ng c Watson v Crick nu ln khi xy dng m hnh chui xon kp.

S bt cp sai c th l cc t bin ng chuyn, trong purine thay bng purine khc v pirimidine thay bng pirimidin khc.

Mc d cc ADN polimerraza III vi hot tnh sa sai c kh nng nhn bit nhng ch bt cp sai v ct b, lm gim ng k cc sai hng nhng vn ko ht. Cc sai hng trn c th dn n hai kiu bin i: ng chuyn hay o chuyn. Cc bin i trn, ngoi vic thay th cc nucleotit trn mch ADN cn c th lm thm hay mt cc nucleotit gy n cc t bin nh hng n kh nng tng hp protein. (Thng tin t Di Truyn Hc ca Phm Thnh H) - nh hng ca t bin gen n sinh tng hp Protein: a, t bin lch khung: 2 kiu t bin c hiu qu nng l thm base v mt base. Cc bin i ny thng lm enzym mt hot tnh. S thm hay mt mt cp base gy nn s dch m lch khung. T im bin i v sau, t b 3 b sai s ko di lin tc n cui mch polypeptit. S tng hp protein c th b kt thc sm nu s lch khung dn n codon kt thc. b, t bin thay th: Nu l t bin sai ngha th s thay th cp nu ny thnh cp nu khc s dn n s thay th acid amin ny bng acid amin khc. Nu l t bin v ngha th s thay th cp nu khng nh hng n acid amin m codon m ho.

Hnh nh v t bin sai ngha Ngoi cc sai hng trong qu trnh sao chp DNA, phn t DNA cn chu cc sai hng ngu nhin c th dn n t bin. 2 kiu sai hng thng gp l mt purin hoc mt amin. t bin cng c th xy ra bng nhng ho cht nhn to, chng c cu trc gn ging vi base nito, gy bt cp sai dn n t bin. II. NST - t bin NST A. Nhim sc th - NST 1. Hnh thi v cu trc

sinh vt nhn thc, tng phn t ADN c lin kt vi cc loi protein khc nhau (ch yu l histon) to nn cu trc c gi l NST (th bt mu vi thuc nhum kim tnh) Cc protein khc tham gia hnh thnh cu trc NST c gi chung l protein phi histon. vi khun tht eubacteria (trong chng trnh ph thng c hiu l sinh vt nhn s n thun) ADN tuy khng lin kt vi protein histon (trn) nhng c lin kt vi cc protein phi histon khc. Tuy nhin, i khi ngi ta cng coi vi khun vi ADN trn dng vng l 1 NST ca vi khun. vi khun c - archaea (cng l sinh vt nhn s, nhng c nhiu c im khc bit - c tnh ring l 1 lnh gii sgk 10) ADN vi loi c lin kt vi protein histon.

phn ln cc loi, NST thng tn ti thnh tng cp tng ng, ging nhau v hnh thi, kch thc v v tr tng ng ca gen (locut gen) nhng khng ging nhau v gen. Ring NST gii tnh c th tn ti ring l, tng ng hoc khng tng ng. Mi loi c b NST c trng v s lng, hnh thi v cu trc. Tuy nhin s lng NST trong b NST khng phn nh mc tin ha ca loi. a. Cu trc hin vi ca NST Cu trc hin vi c hiu l cu trc quan st c di knh hin vi thng thng. Cu trc ny c nhn r nht khi lm tiu bn NST ca t bo trong k gia ca chu k t bo. Khi NST tn ti di dng si kp vi 2 cnh l 2 cromatit.

Mi NST cha 3 trnh t nucleotit c bit: + Tm ng: v tr lin kt vi thoi phn bo (v cng l v tr c nhn i sau cng) + Trnh t u mt: trnh t lp li c bit gip bo v NST + Trnh t khi u ti bn: trnh t m ti ADN c bt u nhn i NST thng c cc phn bt mu m (d nhim sc l vng ng xon cht, thng vng ny gen khng c phin m) v vng bt mu nht hn (nguyn nhim sc l vng c tho xon, thng xy ra s phin m gen tng ng) b. Cu trc siu hin vi ca NST Trnh by mc cun xon t ADN -> NST vi s h tr ca nhiu loi protein.

Cc loi protein tham gia ng gi NST: + 8 protein histon trong nucleoxom: H2A, H2B, H3, H4 - mi loi c 2 phn t. + protein gia cc nucleoxom: H1

2. Chc nng ca NST: Lu tr, bo qun v truyn t thng tin di truyn: iu ha hot ng ca cc gen thng qua mc cun xon ca NST. Gip t bo phn chia u vt cht di truyn vo t bo con pha phn bo.

2. t bin NST t bin NST c 2 dng: t bin cu trc NST v t bin s lng NST a. t bin cu trc NST: L nhng bin i trong cu trc ca NST. t bin ny thc cht l s sp xp li nhng khi gen trn v gia cc NST, c pht hin nh phng php nhum bng NST (tiu bn NST). Cc tc nhn vt l nh cc tia phng x, tc nhn ha hc v cc tc nhn sinh hc nh virus c th gy ra t bin dng ny. Gm 4 dng: mt on, lp on, o on v chuyn on. - Mt on Mt on lm gim s lng gen trn NST. Mt on thng gy cht v gim sc sng hoc mt cc tnh trng tng ng. Do ngi ta ng dng t bin mt on loi khi NST nhng gen khng mong mun hoc xc nh v tr ca gen trn NST -> lp bn gen. - Lp on Lp on lm gia tng s lng gen trn NST. Lp on thng khng gy hu qu nghim trng nh mt on, thng tng cng hoc gim mc biu hin ca tnh trng. Lp on c vai tr quan trng trong tin ha. Bng cch lp on km t bin c th lm xut hin gen mi trong t bo,

- o on mt on film v tip hp ca NST o on o on, nhn chung, khng lm thay i s lng gen trn NST m ch lm thay i trnh t phn b gen, do mc iu ha c th thay i -> thay i mc biu hin ca tnh trng. C th d hp t mang t bin o on nu c trao i cho xy ra trong vng o on -> gim phn khng bnh thng, gy bn bt th. Tuy nhin, c th ng hp v t bin ny vn sinh sn bnh thng. o on cng c vai tr lm tng sai khc gia cc th, ni trong loi ->cch ly hnh thnh loi mi. (hnh nh NST o on tip hp -> cch nhn bit t bin o on) - Chuyn on C th chuyn on t NST khc hoc chuyn on cng lm thay i hoc gi nguyn nhin trong chng trnh chuyn on gia cc NST ny sang NST NST. Do c th s lng gen. Tuy thng ch xt khng tng ng.

Chuyn on tng h l 1 on ca NST ny chuyn dang 1 NST khc v ngc li. Chuyn on khng tng h l trng hp 1 on ca NST hoc c 1 NST ny sp nhp vo NST khc (gi ring trng hp ny l t bin Robecson - gi thuyt ca qu trnh hnh thnh loi ngi t tinh tinh). Chuyn on thng gim kh nng sinh sn (bn bt th), sc sng c th gim, thay i nhm lin kt gen (c th ng dng trong chn ging). Chuyn on c vai tr quan trng trong qu trnh hnh thnh loi mi. (hnh nh 2 NST chuyn on v tip hp -> cch nhn bit t bin chuyn on) b. t bin s lng NST L nhng t bin lm thay i v s lng NST trong t bo. Gm 2 loi: d bi (lch bi) v a bi - D bi (lch bi) L nhng bin i lm thay i s lng ca 1 hay 1 s cp NST. Thng gp: th khng (2n -2), th mt (2n-1), th ba (2n+1), th bn (2n+2) t bin lch bi cung cp nguyn liu cho qu trnh tin ha. Trong chn ging, c th s dng t bin lch bi a NST mong mun vo c th khc. Ngoi ra ngi ta cn s dung lch bi xc nh v tr ca gen trn NST. - a bi

L nhng bin i lm thay i s lng ton b b NST, lm tng 1 s nguyn ln (>2) b NST n bi ca loi. C 2 dng: + T a bi (a bi cng ngun) Gm a bi chn v a bi l. + D a bi Khi c 2 b NST ca 2 loi khc nhau cng tn ti trong 1 t bo (lai xa) a bi thng gp thc vt. ng vt, a bi lm ri lon qu trnh xc nh gii tnh -> thng khng tn ti. a bi thc vt lm tng hm lng gen, t bo ca c th a bi thng c kch thc ln, sinh trng mnh, chng chu tt. Th a bi thng gp nhng vng lnh. a bi chn thng c kh nng sinh sn hu tnh, a bi l thng khng gim phn bnh thng, c th dn n bt th hon ton hoc khng hon ton. Cng thc "nu" mt bi ton lai thng gp

A. S ch: Nguyn liu u vo l cc s liu m php lai cho, c th dng s liu chnh xc (305, 41...), t l (9:6...), phn trm (45%, 5%...) Nhng x l ci g? Bn phi xt xem c bao nhiu tnh trng ang c cp n trong bi, c th 1, 2, 3.. thng gp nht l 2. V cng nh khi x l cc nguyn liu nu n, bn phi x l tng th mt, tc l tng tnh trng mt. Vi nhng tnh trng ring r ny, bn phi suy c: 1. Tnh trng do 1 hay 2 gen quy nh? v 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 nh 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 nh lai phn tch c 3 : 1 xanh (4 t hp) th cng chc chn khng phi l 1 gen.

+ Lai 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. *VD 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)... 2. 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. 3.S di truyn ca tnh trng c lin quan n gii tnh hay gen trong t bo cht hay khng? + Nu php lai thun nghch cho kt qu khc nhau th tnh trng hoc chu nh hng ca gen t bo cht, hoc chu nh hng ca gii tnh. Thng thng, nu do gen trong t bo cht th i con khng c s phn ly theo gii tnh, s khc nhau duy nht l t vai tr ca b m i u. V d n gin l php lai thun nghch b xanh x m -> con ; b x m xanh -> con xanh => gen TBC. ng nhin l khng c s phn tnh i con. Khi s phn ly c khc nhau hai gii, cn t gi thuyt l gen nm trn NST gii tnh (vng tng ng hoc khng tng ng), gen ph thuc gii tnh hoc chu nh hng ca gii tnh... Ngha l c s tham gia ca NST gii tnh! + Nu khng c php lai thun nghch, s phn ly tnh trng c khc nhau hai gii th chc chn c lin quan n gii tnh. Nu tnh trng do 2 gen quy nh th c th 1 trong 2 gen nm trn NST gii tnh... Lu : Nhng trng hp lin quan ti NST gii tnh thng gp: a. Gen trn vng khng tng ng ca NST Y (vit n gin l gen trn Y) y l trng hp t gp, v cng d nhn dng do n ch truyn t XY sang XY (di truyn thng). Bi tp hay gp l trong ph h, khi ng ni truyn cho tt c con trai, chu ni l con trai tng ng. Tuy nhin phi lu v ngoi gen trn Y vn c th c kh nng khc xy ra. b. Gen trn vng khng tng ng ca NST X (vit n gin l gen trn X) y l trng hp hay gp, chim a s. V thm ch c th chc chn l thi H v TN s gp phi. lm bi ny chnh xc tt nht bn nn vit s lai tng ng. Khi tip xc nhiu, bn s nhn dng bi ton nhanh hn. c. Gen trn vng tng ng ca X v Y

Trng hp ny cng rt him gp v l kh nng cui cng khi gi thuyt gen trn X khng tha mn bi. d. Ngoi ra cn c dng tnh trng chu nh hng bi gii tnh. VD gen hi u l tri A. tuy nhin ngi ph n, kiu hnh Aa khng biu hin hi, cn nam biu hin. l l do ti sao n hi t hn nam. Mt iu phi cc k thn trng l b NST gii tnh ca loi ang xt. Nhm loi sinh vt Ngi, th, rui gim, cy gai, cy chua me Chim, bm, b st, lng c, a s cc loi c, cy du ty B xt, chu chu, rp B nhy B. Ch bin - phi hp: Khi x l xong nguyn liu, ci no ra ci ny, tc l s di truyn ca tng tnh trng l thng sut, vic cn lm l phi hp tm ra mi quan h gia chng vi nhau. 1. u tin l nhn th cc tnh trng, xem mi quan h gia chng l g. *VD: hai tnh trng (1) c t l 3:1 v (2) c t l 1:1. Nu l phn ly c lp th t l hai tnh trng phi l 3:3:1:1 Nu khng phi, phi ngh n vic cc gen ny c s di truyn lin kt vi nhau. - Nu l lin kt hon ton, s c hin tng cp tnh trng lun i vi nhau, v s t hp i con (ca 2 tnh trng) lun rt hn ch ( ngha ca lin kt hon ton l gim s bin d t hp, gip cc nhm gen lun di truyn vi nhau). Nhng nu chng cho ra nhiu loi t hp nhng t l khng ging phn ly c lp th nguyn nhn l do xy ra hon v gen. 2. Xc nh tn s hon v gen - nu c. - Hon v gen n gin nht l khi 1 gen quy nh 1 tnh trng, khi , ta thng lu n t l giao t mang 2 alen ln ab. Nu t l ny ln hn 25% th s l lin kt ng, tc l dng , cn nu nh hn 25% th thng l lin kt i, tc l dng . Xc nh c iu ny gip chng ta xc nh t l hon v gen d dng hn. - Hon v gen phc tp hn l 1 gen quy nh 1 tnh trng nhng tnh trng cn li do hai gen quy nh, tng tc vi nhau theo 1 cch no (m ta bit nh khu s ch pha trn!). Khi , cch "nhanh" nht v cng l ng nht l ngi th! Thng cng ch phc tp n va c di truyn c lp, va c hon v Gii ci XX XY XX XO Gii c XY XX XO XX

gen. Cn kh hn, 1 l t gp, 2 l thng mc HSG, t lin quan n thi tt nghip v i hc. - Cng cn lu n tn s hon v gen khc nhau hai gii. iu ny t gp cc loi thng thng, ch cn lu khi bi ni n. Nhng c 1 loi m ta cn thn trng l rui gim. Khi nhc n loi ny trong bi m li c s hon v gen, phi nh hng trong u l hon v ch xy ra con ci (ci ny c nu trong sgk nn kh nng ng n l rt cao). C. Nm v nm gia v. y l 1 khu rt th v khi thng thc thnh qu! Tn gi thng thng ca khu ny l quy c gen v lp s lai (thng vic quy c gen phi bt u t trn i vi bi ton rc ri). Theo ng nhng g lm, vit s lai. C th bn ch suy lun c n vy, cn c nhiu kh nng xy ra. Khi bn cn lm ra nhp trc, xem kh nng no ng th mi vit vo bi lm, cn li c th loi i. Khu ny cn kh nng tc k. Nhng nu khi nm thy khng va ming, tc l khng ging vi nhng g ra. Khi ny phi thng k li t u xem mnh thiu st nhng g, khu no, tnh ton li cn thn. c bit ng cung ri ht ni thc n i nh! D. B quyt cho mn n nhanh v n tic. - n nhanh c hiu l thi trc nghim. Khi , bi khng kh, thng ch dng li na bc th hai l hon thin. Quy lut di truyn chi phi khng phc tp, thng ch ng n 2 quy lut l nhiu. C 1 bi ton dng cho hai con kiu gen xc nh, VD AABbCcdd x AabbCCDd v xc nh s phn ly i con. Quy lut y l phn ly c lp ca cc tnh trng, ch cn xt s phn ly ring r v nhn chng li vi nhau l xong. 1 mo nh l nu lin kt i, dng x v rui gim (hon v gen ch xy ra 1 gii l gii ci) th d tn s hon v gen l bao nhiu i na, s phn ly i con lun l 1A-bb: 2A-B-: 1aaB- (khng tin th li coi!) - n tic, ngha l thi t lun (d khng nhiu). Theo kinh nghim bn thn th vic tm ra quy lut di truyn chi phi quan trng hn rt nhiu so vi vic vit ng s lai (nhng ng b bc ny i nh) Do vy ng qu lo vic vit s lai. Hy trnh by cn thn r rng nhng bc tm ra quy lut di truyn ngi chm d nhn ra (v khng nhng phn sai st qu mc), cui cng vit s lai coi nh tng kt.

14.ADN v nhn i ADN I: ADN 1. Cu trc chung

- ADN cu to t cc nguyn t C, H, O, N, P - ADN l 1 i phn t, cu trc theo nguyn tc a phn gm nhiu n phn l cc Nucleotit (vit tt l Nu) - ADN thng gp c cu trc 2 mch b sung, xon phi (theo m hnh ca J.Oat xn v F Crick), 2 mch ngc chiu nhau, lin kt gia cc Nu trn 1 mch l lin kt photphodieste; gia cc Nu trn 2 mch vi nhau l lin kt Hidro.

(m hnh ADN-phn t ca s sng) - C nhiu loi ADN khc nhau, trong loi ADN m J.Oat xn v F Crick cng b l loi B, ngoi ra cn c nhiu loi ADN khc: A, C, D,... Z khc nhau ch yu kch thc v s Nu trong 1 chu k. ng ch l ADN loi Z cu trc xon tri. ADN mch n tm thy virus. 2. Cu trc c th 1 Nu: n phn ca ADN l Nucleotit, cu trc gm 3 thnh phn: - ng eoxiriboz: - Nhm Photphat - Bazo nito: gm 2 loi chnh: purin v pirimidin:

+ Purin: Nucleotit c kch thc ln hn: A (Adenin) v G (Guanin) + Pirimidin: Nucleotit c kch thc nh hn: T (Timin) v X (Xitozin) V cc thnh phn ng v photphat l chung cho cc Nu, nn ngi ta vn gi thnh phn bazo nito l Nu: Nu loi A, G, T, X... Bazo nito lin kt vi ng tai v tr C th 1; nhm photphat lin kt vi ng ti v tr C th 5 to thnh cu trc 1 Nucleotit 3. S to mch

Khi to mch, nhm photphat ca Nu ng trc s to lin kt vi nhm OH ca Nu ng sau (ti v tr C s 3). Lin kt ny l lin kt photphodieste (nhm photphat to lin kt este vi OH ca ng ca chnh n v to lin kt este th 2 vi OH ca ng ca Nu k tip => ieste). Lin kt ny, tnh theo s th t nh vi C trong ng th s l hng 3'-OH; 5'-photphat. Gia 2 mch, cc Nu lin kt vi nhau theo nguyn tc b sung. A lin kt vi T bng 2 lin kt Hidro; G lin kt vi X bng 3 lin kt Hidro. Do lin kt Hidro l lin kt yu, nn n c th b ph v d dng trong qu trnh nhn i ADN v phin m gen. II: QU TRNH NHN I ADN: 1. Thi im: ADN c nhn i vo giai on S thuc k trung gian ca chu k t bo. K trung gian c 3 giai on chnh: G1, S, G2. C th, khi t bo vt qua im R (im cui pha G1) n s bc vo S v nhn i ADN, dn n nhn i NST. 2. Nguyn liu:

Cc Nucleotit cc loi : A, T, G, X; nng lng cung cp di dng ATP, h enzim sao chp. 3. Nguyn tc: - B sung. - Bn bo ton. C nhiu th nghim chng minh nguyn tc nhn i ADN (c bit l nguyn tc bn bo ton) trong 1 th nghim ni ting l ca Meselson v Stahl. Hai ng dng ng v phng x nh du ADN, sau cho vi khun cha ADN ny thc hin qu trnh nhn i ADN trong mi trng . Nh thc hin ly tm v phn tch kt qu thu c, h chng minh c c ch nhn i bn bo ton ca ADN. 4: Khi u: - Ta u bit ADN xon kh cht, v nh vy rt kh to iu kin cho cc enzim tip xc. V vy, hot ng u tin ca qu trnh l dn mch ADN nh enzim girase (1 loi enzim ADN topoisomeraza) - Sau khi dn mch, enzim helicase s ct lin kt Hidro bt u ti v tr khi u sao chp (ori) tch 2 mch ca ADN, to chc sao chp. - Chc sao chp c hnh thnh, cc phn t protein SSB (protein lin kt si n) s bm vo si ADN n ngn 2 mch ti lin kt vi nhau, gi 2 mch thng, to iu kin thun li cho h enzim hot ng. * Thng thng, mi khi tch mch ra, th ti v tr tch mch s hnh thnh 2 chc sao chp ngc chiu vi nhau. 5. Hnh thnh mch: a. Xt sinh vt nhn s: Trong qu trnh nhn i ADN c s tham gia ca rt nhiu enzim. 1 trong s nhng enzim quan trng l ADN polimeraza (ADN pol - vai tr chnh nhn s l ADN pol III). Enzim ADN pol c 1 c tnh l ch c th b sung mch mi da trn u 3'-OH c sn. iu ny dn ti 2 c im: - ADN pol khng th t tng hp mch mi (Nhng ARN pol th khng i hi yu cu ny)=> cn 1 on mi khong 10 Nu (thng l ARN) - primer (enzim tng hp l primase - 1 loi ARN polimeraza). on mi ny c vai tr cung cp u 3'-OH cho ADN pol tng hp mch mi. Sau , on mi ny, thng, s c thay th bng 1 on ADN tng ng. - ADN pol (III) ch c th tng hp mch mi theo chiu 5'-3'. Do vy, trn mch khun chiu 3'-5' s c tng hp lin tc; cn mch 5'-3' s c tng hp gin on thnh cc on ADN ngn khong 1000 Nu (gi l on Okazaki).

Tin trnh c th hiu n gin l: + Sau khi hnh thnh chc sao chp, enzim primase (ARN pol) s tng hp 1 on ARN mi. + ADN pol III ni di mch da trn on mi . Trn mch 3'-5', n tng hp lin tc, hng vo chc sao chp; trn mch 5'-3' tng hp gin on thnh cc on Okazaki, ngc hng so vi hng pht trin ca chc sao chp. + Cc on mi ny hu ht s c enzim ADN pol I ct i v thay th bng 1 on ADN tng ng. S d ni hu ht, v on mi u tin, ngoi cng ca ADN, n cn 1 enzim ring tng hp on ADN tng ng (enzim ny bn cht ging nh 1 enzim sao chp ngc). Enzim ny ch tn ti trong cc t bo gc, cha bit ha. cc t bo bit ha, gen tng hp enzim ny b kha, do vy sau mi ln nhn i, ADN li ngn i 1 on nh. iu ny lm hn ch s ln nhn i ca t bo, v cng l 1 c ch t cht ca t bo. 1 vi t bo b t bin lm m gen ny -> khng hn ch phn bo -> pht trin thnh ung th (y l 1 c ch gy ung th) + Enzim ligaza s ni cc on ADN ri li vi nhau (nhng on Okazaki vi on ADN thay th on mi...) b. sinh vt nhn thc. S nhn i sinh vt nhn thc nhn chung l ging sinh vt nhn s. Tuy nhin, c 1 vi im khc ng lu : - sinh vt nhn s ch c 1 im khi u sao chp (Ori C), nhng sinh vt nhn thc, do h gen ln, nn c rt nhiu im khi u ti bn. - sinh vt nhn thc, h enzim tham gia phc tp hn so vi nhn s. H enzim ADN pol c nhiu loi alpha, beta, gama... v c ch hot ng phc tp hn. - Nhn chung, tc nhn i sinh vt nhn s ln hn sinh vt nhn thc. 6. Hon thin: c sinh vt nhn s v nhn thc lun c qu trnh sa sai nh h thng enzim sa sai lun r sot trn phn t ADN. Phn t ADN sau khi tng hp xong s hnh thnh cu trc n nh (cun xon, lin kt vi protein...) v c lp vi phn t ADN m. Qu trnh nhn i ADN kt thc thng dn ti qu trnh phn chia t bo. III CC S LIU CN NH. - 1 ngstrm () = 0,1 nanmt - ng knh ca ADN l 20

- Chiu di 1 chu k xon (10 cp bazo): 34 - Chiu di 1 Nu 3.4 - A = T; G = X (A, T, G, X l s lng ccNu tng ng trn c on ADN ang xt) - A1 = T2; A2 =T1; G1 =X2; G2 = X1 (A1, A2... l cc Nu tng loi trn mch 1, mch 2) - A lin kt vi T bng 2 lin kt Hidro; G lin kt vi X bng 3 lin kt Hidro => S lin kt Hidro c tnh: H = 2A+3G - 1 ln nhn i, 1 phn t ADN to ra 2 phn t ADN con. Do vy sau k ln nhn i, 1 phn t ADN to ra 2^k phn t ADN con; n phn t ADN ban u, sau k ln nhn i s to ra n.2^k phn t ADN con. - (S Nu mi trng cung cp cho qu trnh nhn i ADN) = (s Nu c trong tng phn t con) - (s Nu c trong ADN ban u) 15. Gen, ARN v qu trnh phin m I. GEN: Khi nim: Gen l 1 on ca phn t ADN mang thng tin m ha cho 1 sn phm xc nh (sn phm c th l chui polipeptit hay ARN) Cu trc chung: 1 gen m ha protein c cu trc in hnh gm 3 vng: - Vng iu ho: Mang tn hiu khi ng v kim sot qu trnh phin m. - Vng m ha: Mang thng tin m ha cc a.a - Vng kt thc: Mang tn hiu kt thc phin m. Vng iu ha Vng m ha exon intron exon intron exon Vng kt thc (nhn thc)

Trong vng m ha c nhng on thc s mang thng tin m ha a.a (gi l on exon) v nhng on khng mang thng tin m ha a.a (intron). Gen c c exon v intron gi l gen phn mnh; gen ch c exon l gen khng phn mnh. Gen khng phn mnh c nhn s; gen khng phn mnh c nhn thc v vi khun c (t c cp n) Cc on exon lun m u v kt thc cho 1 gen.

Nh vy c ngha l, khng phi tt c cc on ADN u l gen. Thc t, ngi ta nhn thy s lng gen/tng s ADN l rt nh, c bit l sinh vt nhn thc. Cc on ADN khng phi l gen c rt nhiu chc nng quan trng m khoa hc vn cha xc nh c ht. Trong c cc trnh t u mt, trnh t tm ng, on ADN ni gia cc gen.... II. ARN 1. Cu trc chung - ARN (axit ribonucleic) l 1 loi axit nucleic (nh ADN), cu to t cc nguyn t C, H, O, N, P. ARN l 1 i phn t, cu to theo nguyn tc n phn m cc n phn l cc ribonucleotit (riboNu). 2. Cu trc c th 1 riboNu: Gm 3 thnh phn: - ng riboz .

(Hnh nh ch r s khc bit gia ng ca ADN v ARN) - Nhm photphat - Baz nit gm 4 loi A, U, G, X (khc vi ADN) Lin kt to mch ARN ging ADN. 3. Cc loi ARN: C rt nhiu loi ARN khc nhau, nhng tiu biu v hay gp l: - mARN: ARN thng tin: mang thng tin m ha cho a.a

- tARN: ARN vn chuyn: mang a.a tham gia qu trnh dch m. - rARN: ARN riboxom: tham gia cu trc ribxom. Ngoi ra cn c ARN mch n, kp l vt cht di truyn virus, nhiu phn t ARN rt nh c chc nng iu ho, ARN c chc nng nh 1 enzim (ribozim) Mi loi ARN c cu trc, thi gian tn ti trong t bo khc nhau ph hp vi chc nng. III. QU TRNH PHIN M 1. Khi nim: L qu trnh truyn thng tin di truyn t phn t ADN mch kp sang ARN mch n (sgk Sinh 12 nng cao). Qu trnh ny c nhiu tn gi: phin m, tng hp ARN, sao m... nh ngha nh vy khng c ngha rng tt c cc on ADN u s c phin m tr thnh ARN. Ch c gen (nh ngha pha trn) mi c phin m. Qu trnh phin m ch xy ra trn 1 mch ca gen, mch ny c gi l mch gc. 2. Yu t tham gia - Enzim: cn nhiu enzim khc nhau, v cc yu t tr gip. Vai tr chnh l ca ARN polimeraza (ARN pol) - Khun: 1 mch ca ADN. Chiu tng hp mch mi t 5'-3'. - Nguyn liu: Cc riboNu v ngun cung cp nng lng (ATP, UTP, GTP...) 3. Din bin a. M u: - ARN pol nhn bit im khi u phin m. Vic ARN pol nhn bit im khi u phin m ca 1 gen l cc k quan trng i vi s phin m ca gen. 1 khi ARN pol bm vo ADN, gn nh chc chn n s phin m. ARN pol th lun r sot dc si ADN, trong khi gen th c gen c phin m nhiu, gen phin m t. Cn bn ca s khc nhau ny l ci gi l i lc ca gen i vi ARN pol. i lc cng cao, gen cng c nhiu ARN pol chy qua, cng nhiu phn t protein c tng hp. i lc ny ph thuc vo hng lot protein, v c bit l trnh t vng iu ha ca gen. - ADN tho xon, tch mch ti v tr khi u phin m. - Cc riboNu ti v tr ADN tch mch, lin kt vi ADN mch khun theo nguyn tc b sung, c th:

A (ADN) lin kt vi U mi trng (mt) T (ADN) lin kt vi A mt G (ADN) lin kt vi X mt X (ADN) lin kt vi G mt - Hnh thnh lin kt photphoieste gia cc riboNu -> to mch.

b. Ko di: - ARN pol di chuyn trn mch gc theo chiu 3'-5', c nh th, cc riboNu lin kt to thnh phn t ARN. - ARN tch dn khi mch ADN, 2 mch ADN sau khi ARN pol i qua li lin kt tr li. c. Kt thc: Nh tn hiu kt thc, ARN pol kt thc vic tng hp ARN, ri khi ADN. Phn t ARN c to ra sinh vt nhn s, qua 1 vi s ch nh c th lm khun tng hp protein. Trn thc t, sinh vt nhn s, qu trnh phin m (tng hp mARN) v qu trnh dch m (tng hp protein) gn nh xy ra ng thi. Cn sinh vt nhn thc, do gen l gen phn mnh (c xen k exon v intron), nn phn t ARN c to ra c c on tng ng intron, exon. Phn t ny c gi

l tin mARN. Tin mARN s c ct b cc intron to thnh phn t mARN trng thnh. Phn t mARN trng thnh ny mi lm khun tng hp protein. Vic ct b intron kh phc tp. Cn c nhng on trnh t c bit phc h ct intron c th nhn bit c. Do vy, nu c t bin xy ra lm thay i trnh t ny, khin phc h ct intron khng nhn ra intron, khng ct intron, u c th dn n thay i cu trc protein. V vy, khng hon ton ng khi ni rng t bin intron l khng gy hi. Sau khi ct intron, vic sp xp li cc exon cng l vn . S sp xp khc nhau c th dn n cc phn t mARN trng thnh khc nhau, v ng nhin l quy nh cc protein khc nhau. y l 1 hin tng c thy i vi gen quy nh tng hp khng th ngi. V vy, ch 1 lng rt nh gen nhng c th tng hp rt nhiu loi khng th khc nhau. sinh vt nhn thc, h enzim phc tp hn, c nhiu loi ARN pol tng hp tng loi mARN, tARN, rARN. Lu : Khi ni qu trnh phin m xy ra theo chiu 5'-3' mch mi, hay trn mch khun l 3'-5' khng c ngha rng mch 3'-5' ca ADN lun l mch khun. Phn t ARN pol hot ng ti n v l gen. Nu ADN c mch 1 v 2, c th i vi gen ny, mch gc l mch 1, cn gen kia th mch gc li l mch 2. Nm r c iu ny, ta c th thy, trong t bin o on NST. Nu on o cha 1 gen nguyn vn, th khng nh hng ti qu trnh phin m ca gen (b qua nh hng ca cc yu t iu ho) 16. Gen l g ? Cc thng tin di truyn sinh vt cn cho qu trnh sinh trng, pht trin v sinh sn nm trong phn t ADN ca n. Nhng thng tin ny nm trong trnh t nucleotit ca ADN v c t chc thnh cc gen. Mi gen thng cha thng tin tng hp mt chui polypeptit hoc mt phn t ARN c chc nng ring bit. Xt v cu trc, mi gen l mt on ADN ring bit mang trnh t baz thng m ho cho trnh t axit amin ca mt chui polypeptit. Cc gen rt khc nhau v kch thc, c th t di 100 cp n vi triu cp baz. sinh vt bc cao, cc gen hp thnh cc phn t ADN rt di nm trong cc cu trc c gi l nhim sc th. ngi c khong 30.000 - 40.000 gen phn b trn 23 cp NST, trong c 22 cp NST thng (autosome) v 1 cp NST gii tnh (X v Y). Nh vy, ngi c 24 loi NST khc nhau. Trn nhim sc th, cc gen thng nm phn tn v cch bit nhau bi cc on trnh t khng m ha. Cc on trnh t ny c gi l cc on ADN lin gen. ADN lin gen rt di, nh ngi cc gen ch chim di 30% ton b h gen. Xt mi gen, ch mt mch ca chui xon kp l mang thng tin v c gi l mch khun dng to ra phn t ARN mang trnh t b tr iu khin qu trnh tng hp chui polypeptit. Mch kia c gi l mch khng lm khun. C hai mch trn phn t ADN u c th c dng lm mch m ho cho cc gen khc nhau. Ngoi ra, ngi ta cn dng mt s thut ng khc ch mch khun v mch khng lm khun, nh mch i ngha / mch mang ngha, mch khng m ho / mch m ho. Cn ch l,

mch i ngha v mch khng m ha chnh l mch khun tng hp phn t ARN. Kh nng lu gi thng tin di truyn ca ADN l rt ln. Vi mt phn t ADN c n baz s c 4n kh nng t hp trnh t baz khc nhau. Trong thc t, ch mt s lng hn ch cc trnh t mang thng tin c ch (thng tin m ha cc phn t ARN hoc protein c chc nng sinh hc). 17.Trnh t khi u phin m (promoter) l g ? S biu hin ca gen c iu khin rt cht ch. Khng phi tt c cc gen c trong ADN ca t bo u c biu hin ng thi. Nhng gen khc nhau c hot ho biu hin vo nhng thi im v nhng t bo khc nhau. Tt c cc gen c biu hin trong mt t bo s xc nh c tnh v chc nng ca t bo . V d, cc gen biu hin trong t bo c khc vi cc gen c biu hin trong t bo mu. S biu hin ca gen c iu khin bt u t mt on trnh t ADN ng trc (nm ngc dng v pha u 5) so vi on trnh t m ha c gi l trnh t khi u phin m (promoter, cn gi l trnh t khi ng). on trnh t khi ng cha trnh t c hiu c ARN polymerase v cc protein c bit gi l cc yu t phin m nhn bit gn vo trong qu trnh phin m ca gen. Mc biu hin ca gen trong t bo c xc nh bng mc gn kt (i lc) ca ARN polymerase v cc yu t phin m vi promoter. 18. Exon v intron l g ? cc sinh vt bc cao (sinh vt nhn chun), thng tin di truyn m ho trn cc NST thng b phn ct thnh nhiu on trnh t ADN cch bit c gi l cc exon. Cc exon b ngn cch bi nhng trnh t khng mang thng tin c ch c gi l cc intron. S lng cc intron trong mt gen bin ng ln, c th t 0 n trn 50 phn on. di ca cc intron v exon cng rt bin ng, nhng cc intron thng di hn v chim phn ln trnh t ca gen. Trc khi thng tin trong gen c s dng tng hp phn t protein tng ng, th cc intron phi c ct b khi phn t ARN nh qu trnh c gi l qu trnh ct b (qu trnh hon thin phn t mARN). Trong qu trnh , cc exon c gi li v ni li vi nhau thnh mt trnh t m ho lin tc. Vic xc nh cc intron trong trnh t mt gen c th thc hin c nh cc intron in hnh c trnh t bt u l 5-GU v kt thc l AG- 3. Tuy vy, thc t ngoi nhng du hiu ny, vic ct b cc intron cn cn cc trnh t khc vng ni gia intron v exon 19. Gen gi (pseudogene) l g ? C mt s gen ging vi cc gen khc nhng trnh t baz ca chng c nhng sai st lm cho chng khng c kh nng cha nhng thng tin sinh hc hu ch. Nhng gen c gi l nhng gen gi v nhng sai st hoc t bin trong trnh t ADN ca chng xut hin trong qu trnh tin ho lm thng tin b ln ln n mc khng cn iu khin qu trnh sinh tng hp protein bnh thng c

na. Nhng gen gi l du vt ca qu trnh tin ho. Tri qua tin ho, nhng s bin i ban u cc baz gy mt thng tin c lp i lp li n mc thm ch trnh t baz ca cc gen gi khc hn vi trnh t gen gc ban u. V d nh cc gen globin gi trong cc cm gen globin. 20.Khung c l g ? Ngoi vic quy nh im bt u qu trnh tng hp protein, b ba m khi u (AUG) cn xc nh khung c ca trnh t ARN. C th c ba b ba cho bt k mt trnh t baz no, ph thuc vo baz no c chn lm baz bt u ca codon. Thc t trong qu trnh tng hp protein, thng ch c mt khung c c s dng. Cn hai khung c kia thng cha mt s b ba kt thc ngn cn chng c s dng tng hp trc tip nn phn t protein. Khung c 1. 5 - AUG ACU AAG AGA UCC GG - 3 Met Thr Lys Arg Ser

Khung c 2. 5 - A UGA CUA AGA GAU CCG G - 3' Stop Leu Arg Asp Pro

Khung c 3. 5 - AU GAC UAA GAG AUC CGG - 3 Asp Stop Glu le Arg

Mi trnh t ADN c th c theo ba khung c khc nhau, ph thuc vo baz no c chn lm baz khi u. Trn mi phn on ADN mch kp v l thuyt c th c ti a su khung c m (RF) khc nhau. on trnh t nm gia mt b ba khi u v mt b ba kt thc tng ng cng khung c c gi l khung c m (ORF = open reading frame). c im ny c dng xc nh cc trnh t ADN m ho protein trong cc d n gii m h gen.

21.Tnh vn nng ca m di truyn Ban u, ngi ta tin rng m di truyn l vn nng. Ngha l mi sinh vt, cc codon ging nhau u quy nh nhng axit amin nh nhau. Tuy vy, thc t cho thy c mt s trng hp ngoi l. V d, h gen ty th c s khc bit v b ba khi u v b ba kt thc. C th, UAG bnh thng l b ba kt thc, th ty th n li m ho cho tryptophan; AGA v AGG bnh thng quy nh arginin, ty th li c vai tr l cc b ba kt thc; AUA bnh thng m ha cho isoleucin th ty th li xc nh methionin. Ngi ta cho rng nhng thay i ny c th tn ti

c l nh ty th l mt h thng kn. Ngoi h gen ty th, mt s trng hp ngoi l khc cng c tm thy mt s sinh vt n bo. V d mt s ng vt nguyn sinh, cc b ba UAA v UAG bnh thng l cc b ba kt thc th li m ho cho axit glutamic. 22.S hon thin mARN eukaryote (nhn chun) 1. Ct b cc intron Qu trnh ny xy ra trong nhn nhm ct b cc trnh t intron khng m ha khi phn t tin mARN hnh thnh nn phn t mARN hon chnh ch cha cc trnh t m ho lin tc tng ng vi cc exon. Sau , phn t mARN hon chnh c chuyn ra t bo cht lm khun tng hp protein. Qu trnh ct b intron ph thuc vo trnh t tn hiu cc on ni gia cc intron v exon. Cc intron in hnh c gii hn bi u 5-GT v 3-AG. on trnh t tn hiu y u 5 gp phn ln cc gen l: 5-AGGTAAGT-3 v u 3 l 5- YYYYYYNCAG-3 (Y= pyrimidin, N = nucleotit bt k). Vic ct b cc intron c thc hin bi mt phc h gi l spliceosom, gm phn t tin -mARN lin kt vi cc ht ribonucleoprotein nhn kch thc nh snRNP (small nuclear ribonucleoprotein particle, c c tt l snp). snRNP c to thnh t s lin kt gia snARN v protein. C 5 loi snARN ph bin c k hiu l U1, U2, U4, U5 v U6. Mi loi lin kt vi mt s phn t protein hnh thnh nn snRNP. Tr U4 v U6 thng tm thy trong cng mt snRNP, cn cc loi khc tm thy trong cc snRNP ring bit. Qu trnh ct intron tri qua mt s bc nh sau (hnh 5 v 6): 1) U1 snRNP gn vo v tr ct u 5 ca intron. Vic gn ny da trn nguyn tc b tr ca U1 snARN c trong snRNP vi trnh t on ni vi exon gn u 5 ca intron. 2) U2 snRNP gn vo mt trnh t gi l im phn nhnh nm ngc dng so vi on ni vi exon v pha u 3 ca intron. im phn nhnh l v tr c th ca cc intron, ti cha mt adenyl l v tr gn vo ca u 5 t do ca intron trong qu trnh ct b intron. 3) Phc h U4 / U6 snRNP tng tc vi U5 snRNP ri gn vo cc phc h U1 v U2 snRNP lm hai u 5 v 3 ca intron tin li gn nhau, to thnh cu trc thng lng. 4) U4 snRNP tch ra khi phc h, lc ny spliceosome chuyn thnh dng c hot tnh ct (exonuclease). 5) snRNP ct intron u 5 to ra mt u 5 t do. u ny s lin kt vi nucleotit A ti im phn nhnh vo v tr nhm 2- OH (lin kt phosphodieste 5-

2). Nhm 3- OH ca adnyl ny vn lin kt bnh thng vi nucleotit khc trong chui. 6) Intron c ct pha u 5 (intron vn dng thng lng) v cc exon lin k hai u 5 v 3 ca intron lin kt vi nhau. Lc ny phc h snRNP ri khi phn t ARN. V qu trnh ct intron nh vy c lp i lp li.

Hnh 5

Qu trnh ct intron nh trn c tm thy cc gen c phin m nh ARN polymerase . Ngoi c ch trn y, mt s loi phn t ARN c th t ct b intron. Qu trnh ct b intron ny khng ph thuc vo protein v c gi l cc intron nhm . C ch t ct ca cc intron nhm c tm thy cc gen rARN,

mt s gen m ha protein trong ti th v mt s gen m ha mARN v tARN thc khun th. Mt v d v qu trnh t ct ca intron nhm ( Tetrachynema) c m t nh sau: 1) Phn t tin -mARN c ct v tr ni vi exon pha u 5 v mt nucleoit G gn vo v ch ct ny. 2) 3) Intron c ct v tr ni ti u 3. Hai exon lin k c ni li vi nhau.

4) Phn intron c ct ra ng vng to thnh mt phn t ADN dng vng. Sn phm to ra l intron dng mch vng cn phn t ADN cha cc exon dng mch thng. Qu trnh t ct ca intron nhm do chnh ARN t xc tc, v cc ARN c hot tnh nh vy c gi l ribozym. Tuy vy, hot tnh t xc tc ca ARN khng nn coi l hot tnh enzym. Bi, khng ging nh enzym protein, cc phn t ARN khng tr v dng ban u sau khi phn ng kt thc. Vic tm ra ARN c hot tnh xc tc gn ging vi protein lm thay i quan im v ngun gc s sng. Trc y, ngi ta cho rng protein l yu t thit yu qu trnh sao chp cc nucleotit c th xy ra. Nhng l thuyt mi gn y cho rng cc axit nucleic u tin c kh nng t sao chp thng qua hot tnh kiu ribozym.

2. Lp m u 5 ca phn t mARN sinh vt nhn chun c sa i bng cch gn thm mt nucleotit b ci bin l 7-methylguanosin (7-mG); qu trnh c gi l s lp m. M 7-mG c gn nh enzym guanyltransferase ni GTP vi nucleotit u tin ca mARN bng lin kt triphotphat 5 5 khc thng. Sau enzym methyl transferase s gn thm nhm -CH3 vo nit s 7 ca vng guanin; ng thi thng gn thm c vo nhm 2- OH ca ng ribose ca hai nucleotit k tip. Vic to m gip bo v u 5 ca mARN khng b phn hy bi exonuclease trong t bo cht, ng thi lm tn hiu cho ribosom nhn bit im bt u ca phn t mARN. 3. Gn ui poly (A) u 3 ca phn t tin -mARN ca hu ht cc sinh vt nhn chun c sa i bng cch thm vo mt on trnh t poly A (cn c gi l ui polyA) c th di ti 250 baz adenin. S sa i ny c gi l a adenin ha v cn c mt trnh t tn hiu trn phn t tin -mARN. l trnh t 5-AAUAAA-3 nm gn u 3 ca phn t tin -mARN. Khong 11 - 20 baz tip theo c trnh t l

YA (Y= pyrimidin), ri tip n l on trnh t giu GU nm xui dng. C nhiu protein c hiu c kh nng nhn bit v gn vo on trnh t tn hiu to thnh mt phc h ct mARN v tr khong 20 nucleotit pha sau ca trnh t 5AAUAAA-3. Sau , enzym poly(A) polymerase s b sung thm cc adenin vo u 3 ca mARN. Mc ch to ui A cn cha r, nhng c th n c vai tr bo v cho mARN khng b phn hy u 3 bi exonuclease. Tuy nhin, mt s mARN, nh mARN m ho cc protein histon, khng c ui polyA (nhng thng c thi gian tn ti ngn). 23. Cc phn t mARN c hon thin theo cc cch khc nhau Mt trnh t ADN phin m ch cho ra mt phn t tin -mARN, nhng phn t tin -mARN c th c hon thin bng cc cch khc nhau to ra nhiu loi phn t mARN hon chnh khc nhau trc khi c s dng lm khun tng hp protein. l cc c ch ct b tin -mARN khc nhau, trong t bo s dng nhng im ct khc bit loi b hay gi li cc exon trong qu trnh ct b. Ngoi ra, vic tn ti cc tn hiu poly (A) khc nhau trn phn t tin -mARN cng c th dn n vic sinh ra cc phn t mARN c trnh t di ngn khc nhau u 3. V d, vic s dng im poly (A) nm pha trc im kt thc on trnh t m ho c th loi b mt s exon nm sau n v sinh ra mARN m ha cho mt loi protein ngn hn. Mt phn t tin -mARN c th c ct b cc intron theo nhng cch khc nhau cng lc hoc nhng giai on pht trin khc nhau ca mt t bo, hoc khc nhau gia cc t bo khc nhau. Cc protein c sinh ra theo cc c ch ny thng c quan h vi nhau, song chng thng biu hin chc nng hoc c c im ring. V d, qu trnh hon thin phn t tin -mARN ca globulin min dch dn n vic tng hp cc protein c th cha hoc khng cha cc trnh t axit amin k nc cho php n lin kt c vo mng t bo. iu ny gip to ra nhiu dng globulin min dch c th lin kt vi mng v cc dng tit ra khi t bo. Cc phn t tin -mARN cng cn c th tri qua qu trnh sa i trnh t ARN. Trong qu trnh , trnh t ca phn t tin -mARN b bin i bng cch thm vo, bt i hay thay th cc baz. S sa i trnh t ARN c xc nh u tin mt s nguyn sinh ng vt k sinh. nhng loi ny, ngi ta thy cc bn phin m ca nhiu gen ty th b sa i bng cch c b sung thm cc gc uracil. Qu trnh ny cng gp ng vt c xng sng, nhng mc sa i t hn nhiu. ngi, phn t tin -mARN ca gen apolipoprotein B b sa i t bo rut non bng cch thay th baz C bng U to nn mt b ba kt thc, dn n vic tng hp mt phn t protein ngn hn. Trong khi t bo gan, ni trnh t ARN khng b sa i, protein c di y 24.Cc dng bnh di truyn C mt nhm a dng cc bnh l v ri lon gy ra do cc t bin gen v s thay i bt thng ca nhim sc th. Cc ri lon c bn cht di truyn v c th chia lm 3 nhm chnh:

Cc sai hng n gen Cc sai hng n gen cn c gi l cc ri lon di truyn Mendel (Mendelian disorders), cc ri lon n gen (monogenic disorders), hay cc ri lon n locut (single locus disorders). y l mt nhm cc dng bnh l gy ra do s c mt ca mt gen t bin trong c th b bnh. t bin gen lm thay i thng tin m ha ca gen v, hoc dn n vic to ra phn t protein b sai hng v chc nng, hoc thm ch c ch hon ton s tng hp protein m gen m ha. S thiu ht protein do t bin gen gy nn s biu hin ca cc trng thi bnh l. t bin gen c th c di truyn gia cc th h (t b, m sang con, chu) hoc xut hin mt cch t pht (de novo) trong t bo sinh dc (tinh trng hoc trng) trong c th b hoc m, v sau th tinh, a tr hnh thnh mang t bin trong mi t bo. Cc ri lon nhim sc th C cc dng bnh l gy ra do s mt i hoc thm vo mt hoc mt s nhim sc th, hay do s thay i cu trc ca nhim sc th. Phn ln cc ri lon bt thng v nhim sc th xut hin ngay trong cc t bo sinh dc ca c th b hoc m, nhng cng c nhng trng hp gy ra do di truyn t th h trc. Cc dng bt thng v s lng nhim sc th (bin d s lng nhim sc th) c th biu hin bng s tng ln s lng b nhim sc th n bi (hin tng a bi th), hoc do s thm v, hoc mt i ca tng nhim sc th ring l (hin tng lch bi). Cc dng bt thng v cu trc nhim sc th c th gy ra do s t gy nhim sc th lin quan n cc hin tng mt on, lp on hoc o on nhim sc th. Cc ri lon a nhn t y l mt nhm gm nhiu bnh ph bin, v d nh i tho ng, cc bnh mch vnh v phn ln cc d tt bm sinh. Cc bnh ny gy ra do nh hng ca nhiu gen theo cc c ch bnh l phc tp cho n nay cha c hiu bit y , nhng c bit c lin quan n s tng tc ca nhiu gen vi nhau, hoc gia cc gen vi cc yu t mi trng. Trong khong 20 nm qua, nh s pht trin ca cng ngh ADN ti t hp, c nhiu pht hin mi mang tnh bc ngot lin quan n cc bnh l do ri lon n gen gy ra.

DI TRUYN QUN TH
1.TN S ALEN Tn s alen qun th Vi mt qun th bt k vi thnh phn kiu gen: AA ; Aa ; aa.

Tng s c th ca qun th l n. Khi , gi f(A), f(a) ln lt l tn s alen A,a; f(AA), f(Aa), f(aa) ln lt l tn s kiu gen AA, Aa, aa tnh theo cng thc: Tn s kiu gen bng t l mt kiu gen trn tng s kiu gen c th c trong qun th. Ta c: f(A) = = + = f(AA) + f(Aa) = p(A)

Tng t, f(a) = f(aa) + f(Aa) = q(a) * Khi bi cho mt qun th v hi qun th c cn bng khng, th vic ca bn khng phi l xem p+q c bng 1 hay khng, m sau khi tnh c p(A) v q(a) th bn phi xem f(AA) c bng hay khng; f(Aa) c bng 2pq hay khng v f(aa) c bng hay khng. Nu bng th qun th cn bng v ngc li. * Trng thi cn bng di truyn ca qun th: - Nu 1 qun th khng cn bng th sau mt th h giao phi ngu nhin, qun th s c thnh phn kiu gen: (AA) + 2pq(Aa) + (aa) - Nu qun th tip tc giao phi ngu nhin th cc th h k tip khng nhng tn s alen khng i m tn s cc kiu gen cng c duy tr n nh. c gi l trng thi cn bng ca qun th. - Quy lut Hacdi-Vanberg cng p dng cho gen trn NST gii tnh. Tuy nhin khc vi gen trn NST thng, trng thi cn bng di truyn ca qun th khng c thit lp ngay sau mt th h. V NST Y khng mang gen, ta c: f( Y) = p(A); f( Y) = q(a)

Tn s cc kiu gen phn cc c th ci:

(AA) + 2pq(Aa) +

(aa)

2.Phng php gii bi tp di truyn qun th * Cu trc qun th ni phi( t th phn, giao phi cn huyt ) sau n th h: - V mt t l: Nu P: 100% Aa th Fn cho t l kiu gen l: AA : Aa : aa

- V mt s lng: Nu P: 1 Aa th Fn cho: AA : Aa : aa x AA : y Aa : z aa ( x+y+z = 1) th :

* Nu cu trc qun th c dng: + Tn s alen A: p = + Tn s alen a: q =

* Qun th t trng thi cn bng khi xy ra ngu phi( giao phi ngu nhin) v cu trc qun th khi trng thi cn bng l: : 3.Gii ton vi nh lut Haci -Vanbec *CCH TNH TN S TNG I CA CC ALEN: 1) Nu bi cho bit r t l kiu gen (lc ny ta khng cn ch l qun th c cn bng hay khng ) xAA : yAa : zaa -Tn s tng i ca alen A = x+ - Tn s tng i ca alen a = z + * V d : cho qun th vi cc t l kiu gen nh sau 40% AA : 20% Aa : 40%aa suy ra tn s tng i ca cc alen nh sau -Tn s tng i ca alen A=0.4 + -Tn s tng i ca alen a=0.4 + =0.5 =0.5 : ( p + q = 1)

2) bi cho bit t l kiu hnh ln (lc ny qun th phi cn bng mi c th gii c). Qun th cn bng ta c t l kiu gen nh sau AA : 2(pq)Aa : aa v p + q =1

-Bit t l kiu hnh ln suy ra q - Suy ra p=1 - q - Vy tn s tng i ca alen A = p tn s tng i ca alen a = q * V d : qun th cn bng c tt c 400 cy trong cy qu chua l 100 cy .Bit tnh trng qu chua l ln so vi tnh trng qu ngt hy tm tn s tng i ca mi alen. A : a : quy nh tnh trng qu ngt chua

Cy qu chua c kiu gen ng hp ln aa chim 25% =0.25 Suy ra tn s tng i ca alen a=0.5 tn s tng i ca alen A=1-0.5=0.5 M rng nguyn l Hardy-Weinberg - Cc gene lin kt trn X Trong trng hp cc gene lin kt vi gii tnh, tnh hnh tr nn phc tp hn rt nhiu. gii ng giao t, mi quan h gia tn s allele v tn s kiu gene tng t nh mt gene autosome(gen trn NST thng), nhng gii d giao t ch c hai kiu gene v mi c th ch mang mt allele. cho tin, ta xt trng hp gii d giao t l gii c. By gi ta xt hai allele A1 v A2 vi tn s tng ng l p v q, v t cc tn s kiu gene nh sau: Gii ci Kiu gene: Tn s : Gii c A1A1 P A1A2 H A2A2 A1 Q R A2 S

Theo nguyn tc, ta xc nh c tn s ca mt allele (v d A1): - gii ci (pc): - gii c (p): pc = P + H p = R

- chung c qun th ( ):

= pc + p

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. R rng l cc tn s allele hai phn c v ci l khc nhau, do qun th khng trng thi cn bng. Trong khi tn s allele trong c qun th khng thay i qua cc th h, nhng s phn phi cc allele gia hai gii c s dao ng khi qun th tin dn n s cn bng. iu ny c chng minh nh sau. Theo quy lut lin kt gene trn X, cc con c nhn cc gene lin kt gii tnh ch t cc c th m, v vy p th h con bng vi pc th h trc; cc con ci nhn cc gene lin kt gii tnh ng u t c hai b m, v vy pc th h con bng trung bnh cng ca p v pc th h trc. 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) Ngha l, hiu s ca cc tn s allele gia hai gii th h con bng mt na hiu s ca cc tn s allele gia hai gii th h b m ca n, nhng ngc du. 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 nh th 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 = .

TM T L KIU GEN V T L KIU HNH CA QUN TH T TH (QUA NHIU TH H T TH PHN) i vi dng bi tp ny ta ch cn tm t l kiu gen sau s nhanh chng suy ra t l kiu hnh (da vo t l kiu gen) v vy chng ta ch tm hiu phng php tm t l kiu gen . 1) Nu bi ch yu cu kiu gen d hp (qun th ban u ch c kiu gen d hp )-y l trng hp n gin nht. Qun th ban u c kiu gen Aa t th phn qua n th h ta c t l kiu gen d hp Aa th h th n l T l ca AA =aa =

*V d :tm t l kiu gen Aa trong qun th qua 3 th h t th phn Lc t l kiu gen Aa= =12.5%

2)Nu qun th ban u c kiu gen phc tp hn v bi yu cu tm t l ca cc kiu gen sau n th h t th: Qun th ban u c t l nh sau xAA : yAa : zaa

Nu cho t th phn qua n th h ta s c t l nh sau - T l ca Aa = y - T l ca AA = x + - T l ca aa = z + (1(1) 0.6 AA : 0.3 Aa : 0.1aa hy )

*V d : trong qun th c t l cc kiu gen l tm t l kiu gen qua 3 ln t th phn -t l kiu gen Aa = 0.3 x =3.75% )=23.125%

-t l kiu gen aa = 0.1+ 0.15 x (1-t l kiu gen AA=0.6 + 0.15 x ( 1-

) =73.125%

DI TRUYN NGI I. Phng php nghin cu di truyn ngi 1.Phng php nghin cu ph h: a. Mc ch: Nhm xc nh gen quy nh tnh trng + L tri hay ln, + Nm trn NST thng hay gii tnh, + Di truyn theo nhng quy lut di truyn no. b. Ni dung: Nghin cu s di truyn ca mt tnh trng nht nh trn nhng ngi c quan h h hng qua nhiu th h (tnh trng ny c th l mt d tt hoc mt bnh di truyn...). c. Kt qu: bng phng php ny ngi ta xc nh c: - Da en, tc qun, mi dy, lng mi di: l nhng tnh trng tri, Da trng, tc thng, mi mng, lng mi ngn: l nhng tnh trng ln. - Tt xng chi ngn, 6 ngn tay, ngn tay ngn: di truyn theo t bin gen tri, Bch tng, cm ic bm sinh: di truyn theo t bin gen ln. - M mu, mu kh ng: do gen ln thuc NST X quy nh Dnh ngn tay, c tm lng trn vnh tai: do gen thuc trn NST Y quy nh

2.Nghin cu tr ng sinh: a. Mc ch: Nhm xc nh tnh trng do kiu gen quyt nh hay ph thuc nhiu vo iu kin mi trng sng. b. Ni dung: - Nghin cu tr ng sinh cng trng: + Tr ng sinh cng trng c cng kiu gen, cng gii tnh. + Da vo nhm tr ng sinh cng trng nui dng nhng mi trng khc nhau c th nghin cu vai tr ca kiu gen v nh hng ca mi trng i vi tng tnh trng. - Nghin cu tr ng sinh khc trng: + Tr ng sinh khc trng c th c kiu gen, gii tnh khc nhau. + Da vo nhm tr ng sinh khc trng nui dng nhng mi trng nh nhau c th nghin cu vai tr ca kiu gen v nh hng ca mi trng i vi tng tnh trng. c.Kt qu: + Mu mt, nhm mu khng chu nh hng ca mi trng; + Chiu cao t chu nh hng ca mi trng hn khi lng ca c th. + Nhng tnh trng nhm mu, bnh mu kh ng... hon ton ph thuc vo kiu gen. + Khi lng c th, thng minh ph thuc vo c kiu gen ln iu kin mi trng. 3. Nghin cu t bo: a. Mc ch: Tm ra khuyt tt v kiu gen ca cc bnh di truyn chn on v iu tr kp thi. b. Ni dung: Quan st, so snh cu trc hin vi ca b NST trong t bo ca nhng ngi mc bnh di truyn vi b NST trong t bo ca nhng ngi bnh thng. c. Kt qu: Mt s bnh NST thng gp ngi: Bin i NST Biu hin Mt on cp NST s 21 Gy bnh bch cu c tnh hoc 22 3 NST 13 n 15 St mi, tha ngn, cht yu Ngn tr di hn ngn gia, tai 3 NST 16 n 18 thp, hm b...

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