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DI TRUYN HC I CNG
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Li ni u
n nay, di truyn hc ra i ch mi hn mt trm nm song n
pht trin vi mt tc ht sc nhanh chng. c bit l, trong vng 50
nm li y k t ngy James Watson v Francis Crick khm ph ra cu
trc phn t DNA, 25/4/1953. S hon thnh vic gii m di truyn bi
hai nhm nghin cu ca Marshall Nirenberg v Har Gobind Khorana
vo thng 6 nm 1966 v s ra i ca K thut Di truyn v Cng ngh
DNA ti t hp vo gia thp nin 1970 l hai s kin ni bt nht k t
sau khi sinh hc phn t ra i. K , s hon tt ca D n B gene
Ngi vo thng 4 nm 2003 c xem l mt trong nhng k cng thm
him v i nht ca loi ngi. Ln u tin con ngi c th c c
mt cch y ton b trnh t 3.164.700.000 cp base trong b gene
ca mnh. Tt c nhng s kin ni bt ny minh chng mt iu rng: S
pht trin cng vi nhng thnh tu t c ca di truyn hc trong thi
gian qua qu l v cng to ln!
gp phn i mi ni dung gio trnh Di truyn hc theo hng
cp nht kin thc cng nh phng php dy v hc b mn bc i
hc, chng ti tham cu nhiu ti liu khc nhau v n lc bin son
gio trnh trn tinh thn y. Chng ti hy vng rng gio trnh ny s p
ng c phn no nhu cu ging dy v hc tp ca ging vin v sinh
vin, v cng c th s dng nh mt ti liu tham kho b ch cho gio
vin Sinh hc cc trng THPT trong bi cnh i mi gio dc hin nay.
Ni dung gio trnh gm phn M u cng vi 12 chng bao qut
cc kin thc i cng ca mt gio trnh Di truyn hc. Cc chng 14 cp ch yu ni dung thuc Di truyn hc c in, cc chng 5-10
tp trung vo phn Di truyn hc phn t v chng 12 c xem l phn
nhp mn ca Di truyn hc qun th, cn chng 11 l s kt hp gia
cc kin thc di truyn c in v hin i trn i tng l con ngi.
Cui mi chng u c cc phn Cu hi v Bi tp v Ti liu Tham
kho bn c tin n tp v tra cu.
Gio trnh Di truyn hc c ra i trong khun kh ca D n Gio
dc thuc i hc Hu, v vy mt s kin thc nng cao s c cp
trong mt gio trnh ring, nh: Di truyn Vi sinh vt v ng dng,v
Cng ngh DNA Ti t hp. Bn cnh , mt s thut ng khoa hc
c thng nht s dng bng ting Anh gip ngi hc d dng hn
trong vic tip cn vi thng tin qua sch bo nc ngoi hoc internet.
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Gio trnh ny do ThS. Hong Trng Phn (ch bin), TS. Trng Th
Bch Phng v TS. Trn Quc Dung l nhng ging vin ang cng tc
ti Khoa Sinh hc cc trng i hc S phm v i hc Khoa hc
thuc i hc Hu bin son, vi s phn cng nh sau:
ThS. Hong Trng Phn bin son phn M u v cc chng 1, 2,
3, 4, 5, 6, 10 v 12;
TS. Trng Th Bch Phng bin son cc chng 7, 8 v 9; v
TS. Trn Quc Dung bin son chng 11.
gio trnh ny kp thi ra mt bn c, chng ti xin trn trng
cm n D n Gio dc i hc Hu ti tr cho vic bin son v xut
bn gio trnh trong khun kh ca D n Gio dc i hc mc B.
Chng ti xin by t lng cm n c bit n GS. TS. Phan C Nhn,
Trng i hc S phm H Ni, dy cng c bn tho v cho nhiu
kin qu bu cng nh khch l chng ti rt nhiu k t khi cng
gio trnh bt u c hnh thnh.
Do kh nng cn hn ch, chc chn gio trnh cn nhiu thiu st.
Chng ti rt mong nhn c s ph bnh v ch bo ca cc ng
nghip v bn c gio trnh c hon chnh hn trong ln in sau.
Hu, ngy 25 thng 6 nm 2005
Cc tc gi
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Mc lc
11
Li ni u
M u
Hong Trng Phn
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3. Cc c tnh ca m di truyn
4. Nhng ngoi l so vi m di truyn "ph bin"
5. S linh hot trong vic kt cp anticodon-codon
IV. C ch phin m (transcription) v sa i sau phin m
1. Cc RNA v c im chung ca phin m
2. Cc RNA polymerase ca prokaryote v eukaryote
3. Cc promoter cc prokaryote v eukaryote
4. Cc giai on ca qu trnh phin m
5. S sa i sau phin m i vi cc mRNA eukaryote
V. Cu trc v chc nng ca cc loi RNA v ribosome
1. RNA thng tin (messenger RNA = mRNA)
2. RNA vn chuyn (transfer RNA = tRNA)
3. RNA ribosome (ribosomal RNA = rRNA)
4. Ribosome
VI. C ch dch m (translation)
1. Hot ho amino acid
2. C ch ca qu trnh dch m (tng hp polypeptide)
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I. t bin gene
1. Cc kiu t bin gene
2. Cc tc nhn gy t bin gene
3. C ch phn t ca cc t bin gene
II. Sa cha v bo v DNA
III. Cc yu t di truyn vn ng (transposable genetic elements)
1. Cc yu t di truyn vn ng prokaryote
2. Cc yu t di truyn vn ng eukaryote
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I. S di truyn t bo cht
1. S di truyn ca cc gene lp th
2. S di truyn ca cc gene ty th
3. Hiu qu dng m ln chiu xon v c
II. Lp bn ty th v lp th
1. Lp bn gene ca DNA lp th
2. Lp bn gene ca DNA ty th
III. Di truyn hc phn t cc bo quan
1. Cc b gene lp th (cpDNA)
2. Cc b gene ty th (mtDNA)
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M u
I. Khi nim di truyn hc
Theo quan nim ca Bateson (1906), di truyn hc (genetics) l khoa
hc nghin cu cc c tnh di truyn v bin d vn c ca mi sinh vt
cng vi cc nguyn tc v phng php iu khin cc c tnh .
y, tnh di truyn (heredity) c biu hin s ging nhau gia con ci
vi cha m; v tnh bin d (variability) biu hin s sai khc gia cha
m v con ci cng nh gia cc con ci vi nhau.
Cn lu rng, gene l khi nim cn bn ca di truyn hc cho nn
ni dung ca khi nim gene khng ngng c pht trin cng vi s
pht trin ca di truyn hc.
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Hamilton Smith (gii Nobel 1978; Hnh 10); xut cc phng php xc
nh trnh t base trong cc nucleic acid nm 1977 bi P.Berg, W.Gilbert
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ra quy lut, kim tra kiu gene hoc dng thit lp bn di truyn.
i vi nghin cu di truyn ngi v mt s vt nui giao phi cn
huyt (consanguineous), c trng l phng php phn tch ph h
(pedigree analysis) nhm xc nh c im di truyn tri-ln ca mt tnh
trng hoc bnh tt; nghin cu tr sinh i cng trng v khc trng
nhm xc nh h s di truyn (heritability) ca tnh trng; phng php
gy t bin (mutagenesis) kt hp vi lai hu tnh dng trong nghin cu
v chn to ging, c bit l thc vt...
2. Phng php ton hc
Trong nghin cu khoa hc ni chung v di truyn hc ni ring, vic
p dng cc cng c ton thng k v l thuyt xc sut phn tch nh
lng v l gii cc kt qu nghin cu l rt thit yu. Chnh iu lm
cho di truyn hc tr thnh mt khoa hc chnh xc v mang tnh d bo.
iu ny th hin r trong cc cng trnh nghin cu ca Mendel, Morgan
cng nh trong cc nghin cu di truyn s lng v di truyn qun th.
3. Cc phng php vt l v ha hc
Trong nghin cu di truyn, c bit l di truyn phn t v t bo i
hi phi s dng cc k thut v phng php ca vt l v ha hc.
Chng hn, trong nghin cu hnh thi nhim sc th khng th thiu cc
loi knh hin vi quang hc v in t, cc k thut nhum bng (banding
techniques); nghin cu thnh phn ha hc v cu trc DNA i hi cc
phng php sc k v nhiu x tia X...
4. Cc phng php t bo hc
Trong nghin cu di truyn t bo c rt nhiu phng php c s
dng quan st hnh thi nhim sc th v thit lp kiu nhn
(karyotype) ca cc loi cng nh chn on cc bnh tt lin quan
n s bin i s lng v cu trc nhim sc th.
Bn cnh cc k thut nui cy m v chun b nhim sc th l cc
k thut nhum bng khc nhau, k thut lai hunh quang ti ch
(fluorescence in situ hybridization = FISH), k thut min dch t bo
hc... (xem Verma v Babu 1995).
5. Cc phng php ca sinh hc phn t - k thut di truyn
S tin b nhanh chng gn y ca sinh hc phn t v cng ngh
sinh hc l nh s pht trin mnh m ca cc k thut ti t hp DNA, lai
phn t, s dng cc mu d v phng php nh du khc nhau, phng
php PCR, cc phng php xc nh trnh t nucleic acid cng nh cc
phng php bin i vt liu di truyn mi.
Vi cc cng c k thut mi ny cho php i su nghin cu t
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Chng 1
C s ca Di truyn hc Mendel
Cho n u th k XX, mi ngi cn cha hiu c c ch ca s
di truyn, mc d vn bit rng con ci sinh ra thng ging b m. Quan
nim ph bin cho n gia th k XIX c gi gn trong ci gi l
thuyt di truyn ha hp (theory of blending inheritance) nhm gii thch
s kin con ci mang cc c im ca c hai b m. Tuy nhin, n nm
1866 Gregor Mendel a ra thuyt di truyn gin on (theory of
particulate inheritance), vi gi rng: n v di truyn c th kim sot
mt tnh trng c truyn t th h ny sang th h khc tn ti di
dng ht, ngy nay ta gi l gene.
Cc khm ph quan trng ca Mendel t nn mng cho s ra i ca
di truyn hc sau ny. Nh Thomas Hunt Morgan nhn nh: "Trong
mi nm nghin cu cy u H Lan trong ngi vn ca tu vin, G.
Mendel lm nn s khm ph v i nht trong sinh hc t c
trong nm trm nm qua".
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(a)
(b)
Hnh 1.2 (a) By tnh trng tng phn u H Lan c Mendel nghin
cu; dng tri nm bn tri ca mi trng hp. (b) Cu to hoa u,
phng php th phn cho v cy u H Lan.
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T l F2
2,96:1
3,01:1
3,15:1
2,95:1
2,82:1
3,14:1
2,84:1
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F2
AA
Aa
Aa
aa
T l kiu gene 1 AA : 2 Aa : 1 aa
T l kiu hnh 3 vng (A-) : 1 xanh (aa)
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Vng
6.022
1.394
3.580
11.902
109.060
Nhn
2.001
453
1.190
3.903
36.186
T l F2
3,01:1
3,08:1
3,01:1
3,05:1
3,01:1
Tnh ton b
131.958
43.733
3,02:1
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Kiu hnh ht
Vng-trn xanh-nhn
Vng-trn
Vng-trn
Vng-nhn
Xanh-trn
Xanh-nhn
Tng =
S lng
315
101
108
32
T l F2
(quan st)
9,84
3,16
3,38
1,0
T l F2
(k vng)
9
3
3
1
556
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xanh, nhn
Ptc Kiu hnh
Kiu gene
AABB
aabb
Giao t
AB
ab
F1 Kiu gene
AaBb
Kiu hnh
vng, trn
Giao t
AB : Ab : aB : ab
Khung Punnett
F2
AB
Ab
aB
ab
AB
AABB
AABb
AaBB
AaBb
Ab
AABb
AAbb
AaBB
Aabb
aB
AaBB
AaBb
aaBB
aaBb
ab
AaBb
Aabb
aaBb
aabb
T l kiu gene
1/16 AABB + 2/16 AaBB +
2/16 AABb + 4/16 AaBb
1/16 AAbb + 2/16 Aabb
1/16 aaBB + 2/16 aaBb
1/16 aabb
T l kiu hnh
= 9/16 vng, trn
= 3/16 vng, nhn
= 3/16 xanh, trn
= 1/16 xanh, nhn
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NST
thng
9517
360
1512
Lin
kt X
423
38
137
Lin
kt Y
48
0
2
DNA
ty th
37
0
27
Tng
10.025
398
1.678
1326
134
1.464
2150
14.865
153
885
2
56
0
64
2.305
15.870
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2 sp v 1 nga
1 sp v 2 nga
3 mt nga
SSS
SSN
SNN
NNN
SNS
NSN
NSS
NNS
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Gi tr
= 0,05
3,84
5,99
3
7,82
4
9,49
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S quan st (Oi)
S k vng (Ei)
(Oi Ei)2/ Ei
Hoa tm
705
0,098
Hoa trng
224
0,293
Tng
929
929
2 = 0,391
Cu hi v Bi tp
1. i tng v phng php th nghim ca Mendel c nhng c
im c o no m t Mendel khm ph ra cc quy lut di truyn
c s u tin, t nn mng cho s ra i ca di truyn hc?
2. Khi lai gia chut en v chut nu nhn c F1 ton chut en.
Sau cho cc chut ny tp giao vi nhau thu c F2 gm 53 en v 17
nu. Hy gii thch kt qu, vit cc s lai v tnh xc sut ca mi
trng hp phn ly kiu hnh c th c F2 (bit rng s chut F2 thu
c t mi t hp lai ca cc chut F1 trung bnh l bn con).
3. T kt qu lai cu sau y, hy xc nh kiu gene ca mi c th.
Php lai
i con
Trng-1 x trng-2
6 trng : 1 en
Trng-1 x trng-3
5 trng
Trng-1 x en-1
3 trng : 3 en
4. Cho mt rui gim mt nu cnh di giao phi vi mt rui gim
mt cnh di. i con thu c gm 51 di, 53 nu di, 17 ngn
v 18 nu ngn. Hy xc nh kiu gene ca cc rui gim b m.
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Vng,
trn
45
0
31
Vng,
nhn
Xanh,
trn
Xanh,
nhn
15
42
29
16
0
32
5
15
30
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Chng 2
M rng v p dng
ca Di truyn hc Mendel
Nt c sc ca cc th nghim Mendel l s nht qun hon ton
gia cc quan st v gi thuyt ca ng. Tuy nhin, k t sau khi cc cng
trnh ca Mendel c khm ph li, ngi ta cn pht hin ra nhiu ngoi
l suy rng t m hnh Mendel. Trong chng ny, chng ta s tm hiu
cc vn sau: (i) S khc nhau gia cc kiu tri hon ton, tri khng
hon ton v ng tri; (ii) Tc ng ca gene gy cht; (iii) Hin tng
a allele; (iv) Tnh a hiu ca gene; (v) Cc kiu di truyn do nhiu gene
cng tc ng ln mt tnh trng - tng tc gene; (vi) C s di truyn ca
cc tnh trng s lng. Cc kiu di truyn lin kt v lin kt vi gii tnh
tuy cng c xem nh l s m rng ca cc nguyn l Mendel, nhng
s c trnh by trong mt chng ring, chng 4.
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tri ng hp t
d hp t
ln ng hp t
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i con
M M
L L
LMLN
LNLN
LMLM LMLM
1
M M
M N
L L L L
M M
N N
L L L L
M N
M N
L L L L
M N
N N
L L L L
N N
N N
L L L L
1
Mt v d khc l allele ln gy bnh hng cu hnh lim. nhng
ngi d hp t v allele ny (HbAHbS), c hai allele u c biu hin
v cc t bo mu ca h cha c hemoglobin bnh thng v bt thng.
2. Tc ng ca gene gy cht (lethal)
Cc allele gy cht l nhng t bin c th tri hoc ln lm gim sc
sng hoc gy cht i vi cc c th mang n v do , lm bin i t l
3:1 ca Mendel. Nhiu gene c cc allele nh hng ln t l cht ch
khng gy cht; cc allele ny c gi l cc allele c hi (deleterious).
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Yy (vng)
YY : Yy : yy
i con
(cht)
2 vng : 1 agouti
S th ng hp
1
2
3
4
...
n
S th d hp
0
1
3
6
...
n(n 1)/2
n(n+1)/2
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W+
di
We
eossin
Wsat
satsuma
Wbl
blood
Wco
coral
Wap
apricot
Ww
wine
Wi
ivory
Wap3
apricot3
Wt
tinged
Wch
cherry
w
white
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c ch: R-P-
ht u: rrP-
mo n: rrpp
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Enzyme (C)
Enzyme (P)
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Hnh 2.8 T tri sang l cc chut agouti en, agouti nu v bch tng.
Kim chng:
Ptc
Chut nu (bbCC) Chut bch tng (BBcc)
F1
Tt c chut en (BbCc)
F1F1 = BbCc BbCc = (Bb Bb)(Cc Cc)
F2 = (3B-:1bb)(3C-:1cc) = 9 B-C-: 3 bbC- : (3 B-cc + 1 bbcc)
= 9 en : 3 nu : 4 bch tng
2.2. t ch do gene tri vi t l 12:3:1
V d: S di truyn mu sc lng nga. Khi lai gia hai ging nga
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4
1A1A1A2A2
3
2A1A1A2a2
2A1a1A2A2
Kiu hnh
T l
1/16
nht
4/16
2
4A1a1A2a2
1A1A1a2a2
1a1a1A2A2
hng
6/16
1
2A1a1a2a2
2a1a1A2a2
0
1a1a1a2a2
hng nht
4/16
trng
1/16
Hnh 2.9 Mt php lai ca la m v trng do hai gene chi phi, cho
thy mi tng quan gia t l ca cc kiu hnh F2 v s allele tri.
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(a)
(b)
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x=
vx =
1 n
xi
n i =1
1 n
( xi x) 2
n 1 i =1
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H s tng quan
rD
rM
0,96
0,47
0,90
0.57
0,83
0,66
0,97
0,89
H s di truyn
0,98
0,66
0,34
0,16
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Hnh 2.12 Thy tinh th bnh thng (tri) v bnh c thy tinh th (phi)
do mt gen tri gy ra c tc ng ca gene sa i.
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Cu hi v Bi tp
1. Hy ch ra cc mi quan h gia gene v tnh trng. Phn bit cc
kiu tng tc gia cc gene khng allele ln s hnh thnh mt tnh trng.
2. c trng ca cc tnh trng s lng l g? Phn bit cc cp khi
nim sau: tnh trng s lng v tnh trng cht lng, thm nhp v
biu hin, tng tc gia cc gene allele v cc gene khng allele.
3. Mt ph n nhm mu M c mt a con mang nhm mu MN. B
ta ni rng mt ngi n ng no c nhm mu MN l b ca n, v
ng y tuyn b khng phi nh vy. (a) Vi thng tin , bn c th loi
tr ngi n ng ny vi t cch ngi b khng? (b) Vic nghin cu
xa hn cho thy ngi n b ny mang nhm mu B, a con mu O, v
ngi n ng kia nhm mu AB. Vi thng tin ny, c th gt ngi n
ng kia ra khi t cch ngi b hay khng? Ti sao?
4. c mo, cc php lai gia cc c th lng v bc i khi sinh ra
tt c lng ; i khi : bc; v i lc l : trng: bc.
Cc php lai gia hai con lng sinh ra hoc l ton b ; hoc :
trng; hoc : bc. Hy xc nh phng thc di truyn ca tnh
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Dng albino
1
2
3
4
Xm
44
31
48
145
en
0
0
15
43
Nu vng
16
0
0
46
Nu sm
0
0
0
15
Bch tng
20
9
21
82
9. mt loi thc vt, khi lai gia mt dng hoa ta thun chng v
ba dng hoa trng thun chng khc nhau vi kt qu cho nh sau:
Php lai 1
Php lai 2
Php lai 3
ta trng-1
ta trng-2
ta trng-3
F1
18 ta
17 ta
19 ta
F2
95 ta
31 trng
80 ta
36 trng
28
54 ta
32 trng
19
17 xanh da tri
6 nu
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Chng 3
C s T bo ca s Sinh sn,
Di truyn v Bin d
Nh chng ta u bit, cc khm ph ca Mendel v nhng nghin
cu v cu trc t bo trong na cui th k XIX vn cn cha c s gn
kt vi nhau. Vo nm 1902, Walter Sutton (USA) v Theodor Bovery
(Germany), da trn tp tnh tng t ca cc gene v nhim sc th
(chromosome) trong qu trnh gim phn gi rng cc gene c l nm
trn cc nhim sc th. Sutton nhn nh: "Cui cng, ti xin lu rng
xc sut kt hp ca cc nhim sc th b v m theo cc cp v phn ly
sau trong s phn chia gim nhim... to thnh c s vt l cho cc quy
lut di truyn Mendel". Ngy nay, iu y qu hin nhin. Nhng vo thi
nhn nh ny ht sc quan trng; n to ra s kt ni cht ch gia di
truyn hc v t bo hc, hnh thnh nn lnh vc mi gi l di truyn hc
t bo vi s ra i ca thuyt di truyn nhim sc th.
Trong chng ny, chng ta s tm hiu cc nhim sc th c hnh thi
c trng nh th no; bng cch no s lng nhim sc th c duy tr
n nh trong qu trnh nguyn phn, nhng li gim i mt na trong qu
trnh gim phn; v cc kiu bin i v cu trc v s lng nhim sc
th (t bin nhim sc th).
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(2n)
(n)
Hp t
(2n)
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2n
14
20
24
14
28
42
48
48
12
48
52
34
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v tr tm ng
chiu di
kiu bng
(a)
(b)
Hnh 3.2 (a) B nhim sc th c x l bng thuc nhum ph bin
Giemsa; v (b) xc nh cc c im ca mt nhim sc th.
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Hnh 3.3 B nhim sc th ngi c thit lp bng phng php mi kiu nhn ph (spectral karyotype). Ngun: Schrock v cs (1996).
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B i
Cc chomatid khng ch em
Cc chromatid
ch em
Cp tng ng
(a)
(b)
Hnh 3.4 (a) Mt cp nhim sc th tng ng kiu tm u k gia. (b)
Mi chic ly ra t nhn k gia gm hai chromatid ch em dnh nhau tm
ng, gi l b i (dyad) v c cc u mt c trng gi l telomere.
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(a)
(b)
Hnh 3.5 (a) Kiu nhn, v (b) biu nhim sc th ngi.
Ngun: Current Opinion in Genetics & Development (1998)
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(a)
(b)
Hnh 3.6 (a) Nhim sc th khng l trong mt nhn t bo truyn nc
bt ca u trng D. melanogaster, v (b) cu trc chi tit ca nhim sc th
X c tch lm hai na, mi na c 10 vng v mi vng bt u bng mt
bng mu m.
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(a)
(b)
T bo
ngng
phn chia
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K trung gian
u k trc
Cui k trc
K gia
K cui
K sau
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cp nhim sc th
tng ng
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chia ni tip nhau, gim phn I v gim phn II (hnh 3.10). Mi ln phn
chia ny cng c chia lm bn k. Gim phn I (meiosis I) cn gi l
phn chia gim nhim (reductional division), v s lng nhim sc th
(2n) gim xung cn n bi (n). Trong gim phn I, cc chromatid ch
em vn cn dnh nhau trong khi cc nhim sc th tng ng phn ly.
Gim phn II (meiosis II) cn gi l phn chia ng u (equational
division) v rt ging vi nguyn phn ch phn tch cc chromatid ch
em v s lng nhim sc th gi nguyn khng i.
Bi v gim phn l qu trnh di truyn quan trng v cn bn nht
cp t bo, c s cho vic l gii cc quy lut di truyn v bin d, cho
nn trc khi i vo m t gim phn, cn nm ba im chnh sau y: (1)
Gim phn cng vi s th tinh sau cho php duy tr s lng nhim
sc th cc loi sinh sn hu tnh. (2) Gim phn I cho php cc nhim
sc th b v m khc nhau phn ly ngu nhin v mi giao t. (3) S trao
i cho gia cc chromatid trn cc cp nhim sc th tng ng k
trc trong gim phn I to ra cc t hp allele mi cc gene khc nhau.
1.1. Gim phn I (meiosis I)
1.1.1. K trc I (prophase I)
y l pha phc tp nht ca ton b qu trnh gim phn, c chia
lthnh nm giai on khc nhau (hnh 3.11a-e). Giai on th nht gi l
giai on leptotene (si mnh), c trng bng s xut hin ca cc nhim
sc th dng cc si mnh khi nhn di knh hin vi quang hc.
K tip l giai on zygotene (si kt hp), cc nhim sc th tng
ng tin li gn nhau v cc gene tng ng i din nhau. Qu trnh kt
hp ca cc nhim sc th tng ng sau gi l tip hp (synapsis), l
nt c trng c bn phn bit gia gim phn v nguyn phn. Cu trc
gm hai nhim sc th tng ng cha bn chromatid kt cp nh vy
gi l th lng tr (bivalent).
Giai on th ba c tn l pachytene (si dy), v lc ny cc th
lng tr ngn li v dy ln v s tip hp hon tt. Trong giai on ny
c th xy ra hin tng trao i cho (crossing over) hay ti t hp
(recombination) tng phn ca mi cp nhim sc th tng ng.
Giai on th t gi l diplotene (si kp), cc nhim sc th tng
ng bt u tch ra, c bit l cc vng nm hai bn tm ng. (D
nhin, cc chromatid ch em cn dnh nhau tm ng cho ti u k sau
II). Thng thng mi cp nhim sc th tng ng c th c mt hoc
hai vng trong chng vn cn k st nhau hoc tip xc vi nhau, gi l
cc hnh cho (chiasmata). Cc hnh cho ny (hnh 3.12) l bng chng
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(a)
(b)
Hnh 3.12 (a) Cc hnh cho trn mt cp nhim sc th. (b) S hnh thnh
cc chromatid ti t hp bi mt hnh cho t hai nhim sc th tng ng.
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ra mt hp t (hnh 3.14b).
cc thc vt bc cao c qu trnh th tinh kp (double fertilization).
Khi ng phn xm nhp ti phi (embryo sac) v a hai tinh t vo, s
xy ra hai qu trnh th tinh: mt tinh t s kt hp vi non (egg) to
thnh hp t (2n) v tinh t kia s dung hp vi nhn ni nh (endosperm
nucleus; 2n) to thnh mt nhn ni nh (3n). Sau , trong qu trnh hnh
thnh ht, hp t s pht trin thnh phi ht v nhn ni nh s pht trin
thnh ni nh nui phi, gi l phi nh.
(a)
(b)
Hnh 3.14 (a) Cc tinh trng nhm bin (sea urchin) vy quanh mt trng
nhm bin. (b) Mt t bo trng ngi va c th tinh, cc nhn ca tinh
trng v trng th hin bng hai hnh dng khng u nhau, c mu vngnu. Khi hai nhn ny dung hp th s th tinh coi nh hon tt.
Ngun: (a) Francis Leroy, Biocosmos/SPL/Photo Researchers, Inc.
(b) Phototake NYC/Dr. Nikas/Jason Burns 1993-2003 Microsoft Corporation.
V. Cc bin i ca nhim sc th
Trn y chng ta mi ch tm hiu cc c tnh di truyn n nh ca
nhng c th mang b nhim sc th bnh thng m cha cp n mt
bin i ca n. Trn thc t, cc nhim sc th c th b bin i (t
bin) theo hai cch cn bn, l cc bin i v cu trc v v s lng
(bng 3.2). Cc bin i ny c th gy nhng hu qu khc nhau ty loi,
nhng thng l nghim trng. Chng c th gy hiu qu tc thi ln cc
nhim sc th, gy ri lon trong hot ng ca b gene v gim phn; v
t nh hng ti sc sng, hu th...ca cc c th mang chng.
1. Cc bin i v cu trc nhim sc th
C bn kiu bin i cu trc nhim sc th, l: lp on (hay nhn
on), mt an (hay khuyt an), o on v chuyn on nh gii
thiu bng 3.2 (xem Hnh 3.15). Cc kiu t bin cu trc nhim sc
th xy ra l do s t gy v ni li bt thng ca cc on trn cng
mt cp tng ng hoc thm ch gia cc cp khc nhau nh trong
trng hp chuyn on. Ni chung, cc t bin ny thng t gp, trung
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1.1. Lp on (duplication)
Lp on hay nhn on l
trng hp mt on nhim sc th no
c mt hai ln trn mt nhim sc th.
Ty theo v tr v trt t ca cc vng
lp an, ta c th phn ra hai kiu chnh
sau: (i) Lp on c th nm k st vng
nhim sc th ban u. Trong trng
hp trt t cc bng (hoc cc gene) vn
gi nguyn nh ban u th gi l lp
an ni tip (tandem), hoc c trt t
ngc li, gi l lp an o ngc
(reverse). (ii) Nu nh vng lp li nm
cch xa on gc ban u th gi l lp
on chuyn ch (displaced).
C th hnh dung cch lp on ni
tip xy ra l do cc nhim sc th tng
ng gi nhau v c cc ch t ng
thi trn hai nhim sc th ti cc im
khc nhau. Nu cc nhim sc th tng
ng khc nhau ny ni li, th mt
chic s c mt on lp ni tip v
chic kia s mt i mt on tng ng.
Mt on
Lp on
o on
Xen on
Chuyn on
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Hu qu l:
(1) V phng din t bo hc, khi mt c th l d hp kiu nhn v
mt nhim sc th lp on v mt nhim sc th bnh thng th vng lp
on khng c on tng ng kt cp trong gim phn. Lc
on lp s phnh ra di dng mt cu trc hnh vng (loop) sao cho cc
phn cn li ca c hai nhim sc th c th bt cp vi nhau, tc tip hp
gene-i-gene (Hnh 3.17). mt s trng hp, mt vai nhim sc th c
cha on lp c th un vng li sao cho hai u ca on lp giao nhau.
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(a)
(b)
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(a)
(b)
NST 14
NST 21
(46)
(45)
(45; cht)
(46)
Bi v cc c th nhn c ch mt nhim sc th 21 s b cht, nn
chung cuc c khong 1/3 s tr sng (t mt th d hp chuyn on nh
vy) c k vng l mc hi chng Down. Trn thc t, t l ny thp
hn 1/3, ch yu l do mt s c th khng sng st c thi k thai.
Cn lu rng, nguyn nhn ny ca hi chng Down a ra cc gi
cho t vn di truyn (genetic counseling) ch: (1) Hi chng Down c
th ti din cc con ci ca mt kiu nhn d hp v chuyn on, trong
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(a)
(b)
Hnh 3.21 Hi chng Down do th chuyn on dng t(21q; 22q) gy ra:
(a) S hnh thnh cc loi giao t khc nhau t ngi n t(21q; 22q); v (b) S
th tinh gia mt trng bt thng (23,X,+21q) vi tinh trng bnh thng
(23,X) to ra hi chng Down chuyn on dng (46,XX, +21q).
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(a)
NST 1
(b)
NST 2
+
NST b
(c)
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Triticum kiu
di (2n = 14)
Triticum monococcum
(2n = 14)
Qu ca
th a bi
Con lai bt dc
Sai st do
gim phn
T. turgidum
(2n = 28)
Con lai bt dc
Sai st do
gim phn
T. aestivum
(2n = 42)
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B m
Con lai F1 bt th
Th song nh bi hu th
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Gim phn I
Gim
phn II
Hnh 3.27 S khng phn tch xy ra trong gim phn I (bn tri) v gim
phn II (bn phi) vi cc giao t c to ra.
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(a)
(b)
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(a)
(b)
(c)
Hnh 3.29 Hi chng Down
(a) Mt chu b mc hi chng Down (tri) vi c im cu to bn tay. (b)
Mt th v nguy c mc hi chng Down tnh trn 1.000 tr s sinh (trc tung)
lin quan vi cc tui ngi m (trc honh). (c) S hnh thnh cc trng
tha v thiu NST 21 (tri) v s th tinh gia trng tha NST 21 vi tinh trng
bnh thng to ra th ba 21.
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(a)
(b)
(c)
Hnh 3.30 Kiu nhn ca mt s th t bin lch bi thng gp.
(a) Kiu nhn ngi n mc hi chng Down (47, XX, +21);(b) Kiu nhn ngi
mc hi chng Klinefelter (47, XXY). (c) Mt trnh by n gin kiu nhn ca
nhng ngi mc hi chng Turner v Kleinfelter.
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Cu hi v Bi tp
1. Th no l chu k t bo? Bng cch no s lng nhim sc th
c trng ca mi loi c duy tr n nh trong qu trnh nguyn phn?
2. Bng cch no s lng nhim sc th t trng thi lng bi gim
xung cn n bi trong qu trnh gim phn? Ti sao ni cc s kin
k trc v k sau ca gim phn I gp phn quan trng trong vic to ra
ngun bin d t hp phong ph a dng cc loi sinh sn hu tnh?
3. So snh nguyn phn v gim phn, v cho bit ngha ca chng.
4. Ti sao trong mi t bo s lng nhim sc th (mc n) v hm
lng ADN (mc c) l khng ng b trong mi giai on ca phn bo?
5. Hai im sai khc chnh gia s sinh tinh v sinh trng ngi v
hu ht cc ng vt c v khc l g? Cc qu trnh pht sinh giao t
ng vt v thc vt bc cao c nhng im ging v khc nhau no?
6. Mt sinh vt c s lng nhim sc th lng bi bng 12, c k
hiu: Aa, Bb, Cc, Dd, Ee v Ff. (a) C bao nhiu t hp nhim sc th
khc nhau c th xut hin trong cc giao t? (b) Xc sut mt giao t
nhn c tt c cc nhim sc th vit hoa l g?
7. (a) C th c nhng kiu bin i no xy ra trong cu trc nhim
sc th? M t nhng nt chnh xy ra trong mi kiu cng vi hu qu v
ng dng ca chng. (b) Gi tn cc trng hp lch bi ph bin ngi
v m t cc thnh phn nhim sc th ca chng.
8. Mt rui gim ci thn en mun ee (e = ebony) ng hp c cho
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Chng 4
Di truyn hc Nhim sc th
Nh tho lun cc chng trc, nguyn l phn ly c lp ca
Mendel ch nghim ng trong trng hp cc gene nm trn cc nhim
sc th khc nhau v c l gii bng s phn ly ngu nhin ca cc
nhim sc th trong gim phn. Tuy nhin, vo u thp nin 1910,
Thomas Hunt Morgan (hnh 4.1a) da vo cc kt qu nghin cu rui
gim Drosophila melanogaster (hnh 4.1b) nhn ra rng c nhiu gene
cng nm trn mt nhim sc th. iu khng nh ng n ny sm
b sung v lm sng t cho cc nguyn l di truyn Mendel, ng thi t
nn tng vng chc cho s pht trin ca di truyn hc trong sut na u
th k XX. Trong chng ny, chng ta ln lt tm hiu thuyt di truyn
nhim sc th vi cc vn xc nh gii tnh, cc kiu di truyn lin kt
i vi hai hoc nhiu gene trn cng mt nhim sc th, cng nh cc
phng php kinh in dng lp bn di truyn cc sinh vt.
(a)
(b)
(c)
Hnh 4.1 (a) T.H.Morgan; (b) Rui gim D. melanogaster, i tng nghin
cu ni ting ca Morgan; v (c) Herman Muller, mt trong ba mn xut
sc ca Morgan vi phng php gy t bin bng tia X.
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(a)
(b)
Hnh 4.2 (a) S khc nhau v hnh thi ngoi gia rui gim c (trn) v
rui gim ci (di); v (b) b nhim sc th lng bi 2n = 8 ca chng, vi
cp nhim sc th gii tnh XY- con c (tri) v XX- con ci.
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(a)
(e)
(i)
(b)
(f)
(j)
(c)
(g)
(d)
(h)
(k)
(l)
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(a)
(b)
(c)
Hnh 4.5 Cc dng c th nghim vi rui gim. (a) ng nghim nui v lai
rui gim; (b) khay ng cc l ha cht v mt s vt dng khc; v (c) knh
hin vi quang hc dng cho nghin cu hnh thi v t bo hc.
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Con ci
Con c
XX
XX
ZW
Lng bi
XY
X
ZZ
n bi
Hu nh tt c cc ng vt c v, s c mt ca mt nhim sc th
Y cn thit cho s pht trin ca kiu hnh ging c. Chng hn, nhng
ngi mc hi chng Turner (45, X) u l n. Hn na, nhng ngi
mc hi chng Klinefelter (47, XXY hoc 48, XXXY) u l nam mc d
h c th c ti hai hoc ba nhim sc th X. iu chng t nhim sc
th Y c cha gene xc nh tnh c (maleness). Ngy nay ta bit r rng
chnh l nhn t xc nh tinh hon (TDF = testis-determining factor)
nm trn vai ngn nhim sc th Y (hnh 4.6c). Sinclair v cs (1990) gi
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vai p
vai q
(a)
(b)
vng gi nhim
(c) sc th thng
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T l
X/A
1,50
1,33
1,00
1,00
1,00
1,00
0,75
0,67
0,50
0,50
0,33
Ghi ch
Bt th, tnh trng thin v ci
Bt th, tnh trng thin v ci
Hu th
hu th gim
Hu th
Bt th
Bt th
Bt th
Hu th
Hu th
Bt th, tnh trng thin v c
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C ch
Ra (Turtles)
C su (Alligators)
Meloidogyne incognita
Bonellia viridis
Nhit
Nhit
Mt qun th
S c mt con ci
Cc gii tnh
m: ci
Lnh: ci
Phn tn: ci
C: c
Lnh: c
m: c
Tp trung: c
Khng: ci
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Tinh trng
Trng
Ci d hp mt
c bn hp t mt trng
(a)
(b)
Hnh 4.7 Cc php lai thun nghch v mt trng v mt rui gim. (a)
Php lai thun: P = ci mt c mt trng F1 tt c F2 3 : 1
trng (mt trng ch c gii c); v (b) Php lai nghch: P = ci mt trng
c mt F1 gm tt c rui ci mt v tt c rui c mt trng.
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Gene SRY
(TDF)
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Kiu gene
H
X X
XHXh
XhXh
Kiu hnh
bnh thng
th mang
bnh
Nam
Kiu gene
H
X Y
XhY
Kiu hnh
bnh thng
bnh
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(A)
(B)
Hnh 4.10 (A) nh chp cc nhn t cc t bo ca (a) mt con ci (XX)
vi mt th Barr, (b) mt con c (XY) vi khng th Barr no, v (c) mt
con ci XXX vi hai th Barr. (B) S minh ha s hnh thnh th Barr
trong cc trng hp khc nhau.
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Kiu hnh
en
da cam
tam th
Kiu gene
Kiu hnh
XBY
XOY
en
da cam
Con c
Con ci
HH (Suffolk)
Hh (Con lai)
hh (Dorset c sng)
Khng sng
Khng sng
C sng
Khng sng
C sng
C sng
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S quan st (O)
296
19
27
85
427
S k vng (E)
240,2
80,1
80,1
26,7
427,1
(O E)2/ E
13,1
46,5
35,1
127,3
2 = 222,0
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S liu quan st
S liu k vng
xm-di
en-ngn
xm-ngn
en-di
Tng
965
575
944
575
206
575
185
575
2300
2300
Cc kiu hnh b m
Cc kiu hnh ti t hp
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en, ngn
Kiu gene b m
en-ngn
Kiu di
Kiu hnh b m
Kiu gene ti t hp
Xm-ngn
en-di
Kiu hnh ti t hp
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Ghi nh:
(1) S kin trao i cho thng c ch ra trn cc s bng mt
'du cho' () ni gia cc nhim sc th tng ng (hnh 4.14).
(2) i vi trng hp d hp t kp v hai cp gen lin kt, c hai
AB
Ab
cch sp xp cc allele trn mt cp nhim sc th:
v
, m c th
ab
aB
vit n gin l: AB/ab v Ab/aB.
- Cch sp xp cc allele trong hai allele tri trn mt nhim sc
th v hai allele ln trn chic kia, AB/ab, c gi l kiu kt ni
(coupling) hay kiu u (cis). Vi kiu gene ny, AB v ab l cc giao t
thuc kiu cha m, cn Ab v aB l cc giao t thuc kiu ti t hp.
- Cch sp xp cc allele trong mi nhim sc th mang mt allele
tri v mt allele ln sao cho trong th d hp kp chng cc v tr cho
nhau, Ab/aB, c gi l kiu y nhau (repulsion) hay kiu lch (trans).
Vi kiu gene ny, Ab v aB l cc giao t thuc kiu cha m, cn AB v
ab l cc giao t thuc kiu ti t hp.
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B. C trao i cho
Hnh 4.15 Gim phn khng c trao i cho (A) v c mt trao i cho
n (B), v cc sn phm c to thnh i vi hai cp gene bt k trn
mt cp nhim sc th tng ng.
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Kiu gene b m
AB/ab
(1 r)
(1 r)
r
r
1
Ab/aB
r
r
(1 r)
(1 r)
1
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Tn s ti t hp
214/21.736 = 0,010
1.464/4.551= 0,322
471/1.584 = 0,297
17/573
= 0,030
2.062/6.116 = 0,337
406/898
= 0,452
109/405
= 0,269
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30,7 33,7
33,0 36,1
r
57,6
54,5
Tm ng
66,7
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Kiu hnh
trn-nhn
vng-xanh
xanh-vng
trn-nhn
tm-trng
trc-nh
cao-thp
Allele
R-r
I-i
Gp-gp
V-v
A-a
Fa-fa
Le-le
Nhim sc th
7
1
5
4
1
4
4
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3. Trao i cho bn si
Hc thuyt ca Morgan v cc gene lin kt v trao i cho c
ng h rng ri bi nhiu s liu. Tuy nhin, cn cha tht s r rng
ch, liu s ti t hp xy ra gia cc nhim sc th trc khi chng ti
bn ( giai an hai si) hay sau ti bn ( giai on bn si). Nu nh
trao i cho xy ra trc khi ti bn th tt c bn chromatid s l cc th
ti t hp, trong khi nu xy ra sau ti bn th ch c hai trong bn
chromatid s l cc th ti t hp (xem hnh 4.15).
phn bit gia cc dng bin i ny, phi cn ti mt h thng di
truyn trong tt c cc sn phm di truyn t gim phn phi c xc
nh. Bng chng u tin v s trao i cho sau ti bn nhim sc th c
c t vic nghin cu rui gim, trong hai nhim sc th X ca
rui gim ci dnh nhau tm ng ca n v to thnh mt nhim sc th
sai hnh, gi l nhim sc th X-dnh (attached-X). Kt qu ca s dnh
ny l, t con ci c nhim sc th X-dnh v mt nhim sc th Y tch
ring (X-XY) s cho ra cc giao t hoc cha hai nhim sc th X hoc
khng c X (ch c mt Y). V d, php lai trong c hai nhim sc th
X u c mang allele kiu di ti locus mt trng c cho hnh 4.18.
Cc con ci X-XY vi allele kiu di trn c hai X (X+-X+Y) c cho lai
vi cc con c mt trng "bnh thng" (XwY). Cc c th con sng c
u ging vi b m, trong khi cc con rui gim YY cht ht v XXX thng l b cht.
X+-X+Y
XwY
(ci mt )
(c mt trng)
+
+
(Xw : Y)
Giao t
(X -X : Y)
: X+-X+Y
: XwY
: YY
F1 Kiu gene = X+-X+Xw
Kiu hnh = (thng cht) : (ci mt ) : (c mt trng) : (cht)
Hnh 4.18 Mt php lai gia rui gim ci kiu di X-dnh v con c mt
trng. y i con sng st th ging ht cc b m chng.
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(a)
(b)
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(hnh 4.15A), thay v cho bn loi giao t thuc hai kiu (hnh 4.15B).
Hin tng ny lm cho gi tr ti t hp nhn c s thp hn tn s
trao i cho thc v nh hng ti khong cch bn gia cc gene.
(a)
(b)
Hnh 4.20 (a) Hai trao i cho n xy ra vng gia hai gene A v B, v
kt qu l sinh ra c bn loi giao t khng ti t hp i vi hai gene ny,
ngha l khng pht hin c th trao i cho kp no. (b) Trao i cho
n v cc dng trao i cho kp lin quan n hai, ba v c bn si c th
xy ra trong mt cp nhim sc th tng ng.
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(a)
(b)
Hnh 4.21 (a) Mt trao i cho kp, v (b) cc sn phm to thnh.
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+++/+++ ywm/Y
+++/ywm
( F1)
ywm/Y
( dng kim tra)
Giao t
+++
ywm
++m
yw+
y++
+wm
+w+
y+m
S lng
3.501
3.471
1.754
1.700
28
32
6
3
10.495
Tn s
0,664
0,329
0,0057
0,00086
1,0
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(F1 em lai)
S lng
286
33
59
4
2
44
40
272
740
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Bo t v tnh
Dung hp
Sinh trng
sinh dng
Sinh trng
sinh dng
Hp t
Bo t v tnh
(bo t dnh)
Gim
phn I
Gim
phn II
Ny mm
Nguyn phn
Nui cy
Ny mm
Nang cha 8 bo t
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100
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Bn vt l
1. Bn di truyn
(2-5 cM)
2. Bn vt l (bn
Nhim sc th
(A)
4. Xc nh trnh t
(y B gene
Ngi vo 4/2003)
Hnh 4.24 Hai cch so snh khong cch bn (A v B); khong cch bn
d truyn c cho bng n v cM trn mt nhim sc th v khong
cch vt l c cho bng s kilobase trong trnh t DNA.
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Cu hi v Bi tp
1. (a) Trnh by cc c ch xc nh gii tnh cc sinh vt, v nu
ngha thc tin ca chng.
(b) C s di truyn hc ca hin tng bt hot nhim sc th X l g?
(c) Phn bit cc tnh trng lin kt vi gii tnh, tnh trng b gii hn
bi gii tnh v tnh trng chu nh hng ca gii tnh, v cho cc v d.
2. (a) Ni dung c bn ca thuyt di truyn nhim sc th l g? Tn s
tn s ti t hp l g v c ng dng trong di truyn hc nh th no?
Cho v d.
(b) Hy chng minh: Tn s ti t hp (r) ca hai cp gene bt k trn
mt cp nhim sc th tng ng nm trong gii hn 0 r 0,5. C nhn
xt g v mi lin h gia cc quy lut di truyn lin kt v phn ly c
lp?
3. rui gim, ngi ta tin hnh mt s php lai v nhn c kt
qu di y. Hy gii thch c s di truyn cho mi tnh trng v xc
nh kiu gene ca cc c th.
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Rui gim c
76 , di
24 , ngn
39 , di
37 nu, di
13 , ngn
11 nu, ngn
S lng
Kiu hnh
S lng
+
m
+
+
331
2
73
14
m
m
+
m
10
81
0
309
+
+
r
+
+
+
+
v
r +
+v
r v
r v
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Tn s
0,664
0,329
0,0057
0,00086
233
239
241
231
sc + vg
+ ec +
sc + +
+ ec vg
12
14
14
16
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Rastan S. 1994. X chromosome inactivation and the Xist gene. In: Current
Opinion in Genetics & Developmment, Vol 4, No2 (Stillman B and Green
M, eds.), pp 292-297.
Russell PJ. 2003. Essential Genetics. Benjamin/Cummings Publishing
Company, Inc., Menlo Park, CA.
Suzuki DT, Griffiths AJF, Miller JH, Lewontin RC. 1989. An Introduction
to Genetic Analysis. 4th ed, W-H Freeman and Company, New York.
Tamarin RH. 1999. Principles of Genetics. 6th ed, McGraw-Hill, Inc, NY.
Weaver RF, Hedrick PW. 1997. Genetics. 3rd ed, McGraw-Hill
Companies, Inc. Wm.C.Browm Publishers, Dubuque, IA.
Wellnitz WR. 1995. Genetics: Problem Solving Guide. 2nd ed., Wm.C.
Brown Publishers. Dubuque, Iowa.
Yablokov AV. 1986. Population Biology (Progress and problems of
studies on natural populations). MIR Publishers, Moscow. pp17-30.
Mt s trang web
National Human Genome Research Institute (NHGRI)/ National Institute
of Health (NIH). 2005: http://www.genome.gov/
http://www.ncbi.nlm.nih.gov/
Online Mendelian Inheritance in Man (OMIMTM):
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
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Chng 5
Bn cht Ha hc v Ti bn
ca Vt cht Di truyn
Trc tin, chng ta cn nm cc c tnh thit yu ca vt cht di
truyn sau y: (1) c tnh thng tin sinh hc: cha ng thng tin cn
thit cho vic xc nh cu trc ca tt c cc protein c th ca loi (cc
gene cu trc) v iu khin cc hot ng sinh trng, phn chia v bit
ho t bo; (2) c tnh ti bn: kh nng t sao chp chnh xc, m bo
thng tin di truyn ca th h sau ging vi th h trc; (3) c tnh hot
ng ca cc gene: cc gene trong b gene c kh nng tng hp ra cc
sn phm l nhng phn t tham gia vo mi ng sng cn bn ca t
bo (phin m v dch m); (3) c tnh bin i: kh nng b bin i t
nhiu qu trnh khc nhau (nh t bin, ti t hp, cc yu t di truyn
vn ng). Chnh s bin i a dng ny to ra cc ngun bin d di
truyn a dng v phong ph cho s chn lc v tin ho.
Ngy nay chng ta u bit rng vt cht di truyn chnh l cc
nucleic acid m hu ht sinh vt l loi deoxyribonucleic acid (DNA) v
mt s virus l ribonucleic acid (RNA). Trong chng ny, chng ta s
tm hiu thnh phn ha hc v cu trc cng nh c ch ti bn ca vt
cht di truyn l cc i phn t DNA v RNA.
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Ni S
sng
Ni R
sng
Ni S
cht
S cht + R
sng
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Ht
virus
DNA
V virus
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Sau ny, nm 1956 A.Gierer chng minh rng RNA c tinh sch t
virus m thuc l (tobacco mosaic virus = TMV) c kh nng ly nhim
khi khng c bt k protein no thuc virus. Kt qu phn tch cc virus
th h con cho thy chng hon ton ging vi cc virus sinh ra t s cho
ly nhim bng cc virus cn nguyn vn. Bng chng RNA l thnh phn
di truyn ca TMV cng c Fraenkel Conrat v B.Singer ti xc
nhn nm 1957 trong th nghim "lp rp cho" gia li RNA v v
protein ca hao kiu TMV l S v HR.
lin kt glycosid
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adenine (A), thymine (T), guanine (G) v cytosine (C); trong RNA cng
cha bn loi nhng ch khc l thymine c thay bi uracil (U).
(2) ng pentose ca RNA l D-ribose v ca DNA l 2-deoxy-Dribose (k hiu D-: ch dng ng quay phi phn bit vi dng Lquay tri khng c trong thnh phn ca cc nucleic acid t nhin). Hai
gc ng ny khc nhau C2'; trong ribose l nhm -OH v trong
deoxyribose l -H. S c mt ca thnh phn ng trong cc nucleotide
phn bit hai loi ribonucleotide v deoxyribonucleotide cu to nn hai
loi nucleic acid tng ng l RNA v DNA.
(3) Cu trc "base + ng" gi l nucleoside; cch c v vit tt
tng ng vi cc base A, T, G v C trong DNA nh sau: deoxyadenosine
(dA), deoxythymidine (dT), deoxyguanosine (dG) v deoxycytidine (dC);
cch gi cho cc nucleoside trong RNA ch cn b tin ng "deoxy" (d),
v thay cho dT l uridine (U). V nu c y tn gi ca mt
nucleotide ch cn thm ci "ui" 5'-monophosphate, v d hnh 5.3.
(4) Tnh phn cc trong cu trc mt nucleotide cn th hin cc
nhm hydroxyl (-OH) hai v tr C5' (hnh thnh lin kt ester vi nhm
phosphate to ra nucleotide) v C3' (hnh thnh lin kt phosphodiester
vi nucleotide khc to chui polynucleotide).
2. Cu trc chui polynucleotide
u 5'
Lin kt 3',5'-phosphodiester v
chiu 5'3' ca chui polynucleotide
u 3'
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A%
T%
G% C%
Phage lambda
Phage T7
Mycobacterium tuberculosis
Escherichia coli
Aspergillus niger (nm mc)
Saccharomyces cerevisiae
Triticum (la m)
Zea mays (ng)
Salmo salar (c hi)
Gallus domestica (g nh)
Homo sapiens (ngi)
21,3
26,0
15,1
24,7
25,0
31,3
27,3
26,8
29,7
29,5
30,9
22,9
26,0
14,6
23,6
24,9
32,9
27,1
27,2
29,1
27,7
29,4
28,6
24,0
34,9
26,0
25,1
18,7
22,7
22,8
20,8
22,4
19,9
27,2
24,0
35,4
25,7
25,0
17,1
22,8
23,2
20,4
20,4
19,8
A+G
T +C
A+T
G+C
1,00
1,00
1,00
1,03
1,00
1,00
1,00
0,98
1,02
1,08
1,01
0,79
1,08
0,42
0,93
1,00
1,79
1,19
1,17
1,43
1,34
1,52
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trc DNA. Tuy nhin, gii php ng n nht l chui xon kp (double
helix) b sung do James Watson v Francis Crick a ra nm 1953. M
hnh ny (hnh 5.6) ph hp vi cc s liu ca Wilkins v Franklin cng
nh ca Chargaff. S kin ny m ra mt bc ngot mi cho cho s ra
i v pht trin vi tc nh v bo ca di truyn hc phn t v sinh
hc ni chung.
Lin kt
hydro
B khung ng-phosphate
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Hnh 5.7 Hai kiu kt cp base ca DNA. Cp G-C ni vi nhau bng ba lin
kt hydro (biu th bng cc ng chm), c cng hnh dng chnh xc nh cp
A-T ni vi nhau bng hai lin kt hydro. Cc mi tn ch v tr lin kt gia base
vi gc ng.
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DNA si kp giu GC
ch- a bnng chy
DNA E. coli
v i 50% G-C, c
Tm bng 69 o C.
50
60
70
80
Nhit oC
Hm l- ng G-C c th- c x c nh t Tm ca DNA
Hnh 5.9 DNA bin tnh tng phn. Hnh 5.10 S ph thuc ca Tm vo
hm lng GC ca 3 DNA khc nhau
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Hnh 5.11 Bin tnh v hi tnh ca DNA (tri) v lai nucleic acid (phi).
Theo ngha rng, lai phn t hay lai nucleic acid c hiu l s tng
tc gia cc si nucleic acid b sung. N c th xy ra gia hai si DNA
hay gia cc si DNA v RNA, v chnh l c s ca nhiu k thut,
chng hn nh: lai mt mu d c nh du ng v phng x (radioactive
probe) lc ra DNA hay RNA bm vo mang lai l mt trong nhng th
nghim cho nhiu thng tin b ch nht c tin hnh trong di truyn hc
phn t. Hai kiu c bn ca lai phn t l phng php thm Southern
(Southern blots) v phng php thm Northern (Northern blots). Trong
, kiu u l lai bng mt mu d lc DNA, cn kiu sau dng lc
RNA. Mu d (probe) l cc cng c s cp c dng xc nh cc
trnh t b sung cn quan tm; n l mt nucleic acid si n c nh
du phng x v c dng xc nh mt trnh t nucleic acid b sung
bm trn mng lc nitrocellulose hay mng lai bng nylon. Ni chung,
mu d l mt dng (clone) c to ra bng cch xen DNA vo mt
vector. Thng thng hu ht cc vt d ny l cc dng thuc plasmid.
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RNA
V (capsid)
Bao virus
Protein virus
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S bp
5.386
48.502
~2 105
3.569
5.226
29.600
172.282
1.830.138
1.042.519
2.160.837
4.033.460
4.411.532
4.214.814
4.639.221
4.674.062
5,44 106
S gene
Ghi ch
10 DNA si n vng
~61 DNA si kp thng
150-200 DNA si kp thng
4 RNA
DNA si kp vng
RNA
80 DNA si kp thng
1.738
936
2.236
3.890
3.959
4.779
4.377
5.419
5.416
5.770
12.495.682
12.462.637
4.929
22.853.764
5.268
38.639.769
10.082
100.258.171 ~19.000
25.498
115.409.949
122.653.977
13.379
~3,2 109 ~25.000
4,3 108 ~60.000
3 1011
?
2,2 109
?
?
109 - 1011
Gy bnh lao
C 4290 cistron
Vector hu ch...
Gy bnh ngi
Men bia ny chi
Nm men phn ct
Gy st rt nguy hi
+ 498 gene RNA
Gii tr.t u tin...
Thc vt c hoa
Rui gim
Gii tr.t 4/2003 ...
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S cp base
16.569
19.517
85.779
1485 ; 2.135
1.913
DNA lp th
La (ind; jap)
Ng
Ma
Plasmid
N. crassa
Brassica
S cp base
134494 ; 134525
140.384
141.182
3581; 3675;7050
11.640
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on DNA
si kp
NST k gia
Chui
nucleosome
Chromatin
c c
Si chromatin
30 nm
Cc nucleosome
Chui xon kp
DNA
Vng cun
vng
Vng xon
cht
NST
k gia
Hnh 5.15 T chc DNA trong nhim sc th eukaryote. DNA cun cht
trong nhim sc th k gia c m xon dn qua cc mc khc nhau (hnh
tri). DNA ng xon dn qua cc mc cho n khi hnh thnh nhim sc th k
gia nguyn phn, vi chiu di rt ngn khong 50.000 ln (hnh phi).
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5'-...TTAGGGTTAGGGTTAGGGTTAGGG...-3'
Nhn chung, b gene ngi c cc c im sau: (1) V b gene nhn,
kch thc b gene n bi l ~3,2 t bp; hu nh tt c mc phc tp
ca n u nm trong lp DNA bn sao n (~75%). B gene ngi c
coi l c cha khong 25.000 gene m ha protein. Trong a phn l
cc gene phn on vi cu trc phc tp (xem chng 6). Cc gene u
cha t 1 cho n trn 75 exon (on m ha protein) v c chiu di bin
thin t di 100 cho n khong 2.400.000 bp (gene gy ri lon dng
c DMD c xem l di nht vi 2,4 triu bp ny chim ~ 1,5% nhim
sc th X m n nh khu). Trnh t Alu c mt khp b gene. (2) V b
gene ty th, y l b gene mch vng vi 16.569 bp v cha ~ 40 gene.
V. Ti bn DNA
Sau khi khm ph ra cu trc DNA, Watson v Crick xut ba
kiu truyn thng tin di truyn c th c trong cc t bo: (1) Ti bn
(replication): DNADNA; (2) Phin m (transcription): DNARNA; v
(3) Dch m (translation): RNAProtein. Cc knh truyn thng tin di
truyn ny c gi l Gio l Trung tm (Central Dogma) ca sinh hc
phn t. Sau ny n nm 1970, Baltimore v Temin qua nghin cu c
ch hot ng ca b gene RNA virus Sarcoma b sung thm knh
RNADNA, gi l phin m ngc (reverse transciption) v n ngc
hng vi knh phin m ph bin. iu ny c minh ha hnh 5.16.
Dch m
Phin m
Ti bn
Phin m
ngc
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khi im (Ori)
chc
sinh
trng
chc
sinh
trng
Hnh 5.18 Mt khi im v hai chc ti bn sinh trng theo hai hng
i lp nhau. y cng cho thy on mi RNA c tng hp trc.
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pol I
pol II
pol III
Polymerase 5'3'
Exonuclease 3'5'
Exonuclease 5'3'
DNA polymerase ngi
c
c
c
c
c
khng
c
c
khng
nh v
Ti bn
Sa cha
Chc nng
Polymerase 5'3'
Exonuclease 3'5'
Exonuclease 5'3'
Primase
Kt hp vi PCNA*
Mu trt (Processivity)
Tng hp si
nhn
c
khng
nhn
khng
c
ty th
c
khng
nhn
c
c
nhn
c
c
c
khng
khng
c
khng
thp
c
khng
khng
khng
khng
c
c
khng
khng
khng
c
c
khng
khng
c
cao
c
c
khng
khng
c
ra chm
sacha
c hai
dn u
ra chm
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Cc u mt khng y
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Hng
ti bn
chung
Si ra chm
Si dn u
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(a)
(b)
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Ko di
Chuyn dch
Ko di
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3. Phin m ngc
Phin m ngc (reverse transcription) l kiu truyn thng tin t
RNA sang DNA, ch xy ra trong cc t bo ng vt v ngi b ly
nhim bi mt s virus mang mt si RNA c kh nng gy khi u hoc
hai si RNA nh trng hp HIV chng hn. Trn mi si RNA li ca
cc virus ny c mang mt enzyme phin m ngc (reverse
transcriptase). Khi xm nhp vo t bo ch, enzyme ny s dng RNA
ca virus lm khun tng hp si DNA b sung (complementary DNA
= cDNA). Sau , si cDNA ny c th lm khun tng hp tr li b
gene ca virus (cDNARNA), hoc tng hp ra si DNA th hai b sung
vi n (cDNADNA) nh trong trng hp virus gy khi u m kt qu
l to ra mt cDNA si kp. Phn t DNA si kp c tng hp trc
tin trong qu trnh ly nhim c th xen vo DNA ca vt ch v trng
thi tin virus (provirus). V vy, provirus c truyn li cho cc t bo
con thng qua s ti bn ca DNA vt ch, ngha l cc t bo con chu
ca vt ch cng b chuyn sang tnh trng c mm bnh ung th. Cc t
bo ung th ny mt kh nng kim sot s sinh trng - phn chia in
hnh ca t bo bnh thng; chng tng sinh rt nhanh v to ra khi u
(tumor). chnh l c ch gy ung th bi virus.
Ngy nay, ngi ta c th tinh chit cc enzyme phin m ngc
phc v cho k thut to dng cDNA ti t hp (chng 10).
Cu hi v Bi tp
1. Trn c s cc c im ca m hnh Watson-Crick, hy cho bit: (a)
M hnh ny cho php gii thch cc quy lut Chargaff nh th no? (b) C
s ca c tnh i song song trong chui xon kp DNA l g? (c) M hnh
ny gi ln kh nng t ti bn ca DNA ra sao?
2. Hy xc nh hm tng i (%) ca cc nucleotide trong DNA ca
ngi, c hi (Salmo salar) v g (Gallus domesticus). Bit rng t l
(A+T)/(G+C) tng ng ca cc loi ny l 1,52; 1,43; v 1,34.
3. Da vo cu trc ha hc lp th ca cc base (A,T,G v C), hy
gii thch: (a) Ti sao trong ADN ch tn ti hai kiu kt cp A-T v G-C
m khng c cc kiu khc? (b) Cc kiu kt cp A-C v G-T c th xy
ra khi no v gy ra hu qu g? Gii thch v cho cc s minh ha.
4. Gi s t l (A+T)/(G+C) mt si ca chui xon kp ADN l
0,25. (a) Hy cho bit t l ny trn si b sung v trn c phn t? (b)
Nu cho rng 0,25 l ca t l (A+G)/(T+C), th t l ny trn si b sung
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Chng 6
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cistron 2
cistron 1
Kiu di
(b)
cistron 1
cistron 2
P Kiu di
(c)
(a)
cistron 2
P Kiu di
cistron 1
X
cistron 2
Th t
bin
(d)
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(a)
(b)
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(a)
(b)
(c)
Hnh 6.4 nh hin vi in t v hnh m phng vic s dng vt d mRNA
t bo cht c nh du pht hin gene phn on (a v b); m t vn tt
s tng hp pre-mRNA v ct b cc intron to ra mRNA trng thnh
t mt gene phn on c cha hai intron (c).
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hoc bin tp RNA (RNA editing). Chng hn, khm ph mi nht cho
thy glucose 6-phosphate dehydrogenase l mt enzyme c mt trong cc
t bo hng cu ngi; n bao gm hai dng nh/th yu v ln/chnh yu
(minor and major form); dng u c trnh t cc amino acid thuc gene
trn nhim sc th X; v dng sau gm hai peptide c m ha t thng
tin ca hai nhim sc th, cc amino acid trong on 1-53 c m ha
trn nhim sc th s 6 v cc amino acid on tip theo 54-479 c
m ha trn nhim sc th X (theo McClean 1998). Tt c nhng trng
hp ny ni ln mt iu rng, a ra mt nh ngha chnh xc v gene
khng h n gin t no. Tuy nhin, nhn ton cc th mt khi nim
thng nht ni bt l, tt c cc sinh vt t vi khun E. coli cho n con
ngi u c chung h thng mt m di truyn v c chung phng thc
'chuyn ti' thng tin trong gene thnh ra protein.
4.3. Cc thnh phn cu trc hay l t chc ca mt gene
T chc ca mt gene c th bao gm cc vng ring bit vi cc chc
nng c th (Bng 6.1; theo Twyman 1998, c sa i).
Bng 6.1 Cc thut ng c dng ch cc phn chc nng ca cc gene
Thut ng
Allele
Cistron
Vng m ha, khung
c m (ORF)
Gene phn on
Gene
Locus gene
Operon
Pseudogene
on m c
nh ngha
Mt bin th v trnh t ca mt gene (hoc marker
di truyn khc, v d: trnh t RFLP, VNTR).
Mt n v chc nng di truyn, mt vng ca DNA
m ha mt sn phm c th.
Mt vng ca DNA c dch m thnh protein. vi
khun, l m gene. eukaryote, vng m ha
c th b gin an bi cc intron.
Mt gene m ha protein gm cc on khng m ha
(intron) nm xen k gia cc om m ha (exon).
vi khun, mt n v chc nng di truyn m ha
hoc l 1 polypeptide ring hoc phn t RNA.
eukaryote, 1 n v phin m c th m ha 1 hay
nhiu sn phm hoc ng gp vo 1 sn phm.
V tr ca mt gene trn mt nhim sc th, k c cc
yu t iu ha k bn. Thut ng locus c dng
theo cch ring ch v tr ca gene-marker bt
k, yu t iu ha, khi im ti bn, v.v..
Mt locus ca vi khun c cha nhiu gene (m c
phin m nh l mt bn sao polycistron n) v
cc yu t iu ha chung ca chng.
Mt trnh t khng hot ng chc nng vn c cu
trc tng t mt gene hot ng chc nng.
Bt k phn no ca n v phin m ca 1 gene RNA
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phin m
n v phin m,
vng c phin m
Vng khng c
dch m (UTR)
Gene b phn chia
(divided gene)
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Hnh 6.6 Hai mi loi amino acid pht hin c trong cc protein, vi
bn nhm: A. Cc amino acid c chui bn tch in dng (3 bn tri) v m
(2 bn phi); B. Cc amino acid c chui bn khng tch in; C. Cc trng
hp c bit; v D. Cc amino acid c chui bn k nc.
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(a)
(b)
Hnh 6.7 (a) Cu trc chung ca mt amino acid; (b) s hnh thnh chui
polypeptide, cu trc s cp ca tt c cc protein.
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Xon alpha
Cu trc protein bc II xy ra khi trnh t cc
amino acid trong mt chui polypeptide ni vi
nhau bng cc lin kt hydro. Cu trc ny c
hai kiu c bn, l: chui xon alpha (theo
chiu xon tri) v tm beta (dng gp np).
dng tm beta, hai chui polypeptide i song
song xp cnh nhau; in hnh l cc si t.
Tm beta
Cu trc protein bc III xy ra khi cc lc
hp dn no c mt gia cc vng xon
Xon alpha v cc tm beta gp np trong mt chui
alpha polypeptide, hnh thnh nn mt cu trc cun
gp c dng khi cu. Mt s protein chc
nng c cu trc kiu ny, nh myoglobin...
Cu trc protein bc IV l mt protein gm
hai hoc nhiu chui popeptide cng loi hoc
khc loi kt hp vi nhau. C kh nhiu
protein chc nng c kiu cu trc ny; mt s
nh hemoglobin v chlorophyll, trong thnh
phn cn c ion tng ng l Fe++ v Mg++.
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Hnh 6.9 Cu trc bc IV in hnh ca hemoglobin, tubulin v immunoglobulin. y cho thy s chui polypeptide v c bit l cc vng chc nng
c trng ca hemoglobin v khng th immunoglobulin kiu IgG.
III. M di truyn
Gene (DNA) c cu to t bn loi nucleotide, trong khi protein
c cu to bi 20 loi amino acid. Vy vn t ra l, cc gene m
ha cho cc sn phm protein ca chng bng cch no?
Bng suy lun, ta c th suy on rng mi amino acid khng th c
xc nh bi n v m gm mt, hai hoc bn nucleotide (v 41 = 4 hoc
42 =16 th cha m ha cho 20 amino acid, trong khi 44 = 256 th li
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phn ln codon c thnh phn base khng ng nht, v vic gii ton b
h thng m di truyn (genetic code) c hon thnh vo thng 6/1966.
Vi cng lao to ln Khorana v Nirenberg c trao gii thng Nobel
nm 1968. T y cho php xy dng nn bng m di truyn (Bng 6.2)
v rt ra c cc c tnh ca m nh c trnh by di y.
Bng 6.2 M di truyn (cho cc codon trn mRNA theo chiu 5'3')
3. Cc c tnh ca m di truyn
- M di truyn l m b ba (triplet code), ngha l mt b ba
nucleotide k tip m ho cho mt amino acid. Cc b ba trn gene v
mRNA gi l codon (m) v b ba c trng ca tRNA c th khp vi
codon ca mRNA theo nguyn tc b sung gi l anticodon (i m).
- M di truyn khng gi ln nhau (non-overlapping): Mi codon l mt
n v c lp, v thng tin ca mRNA c c theo mt chiu 5'3'
(hnh 6.10) bt u t codon khi u.
3'
5'
Hnh 6.10 Cc phn t tRNA mang amino acid Ser (tri) v Tyr (phi) c
m trn mRNA bng cch khp anticodon ca chng vi codon ca mRNA.
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Ty th thc vt bc cao
Cc nhn Protozoa
Mycoplasma
Codon
UGA
AGA & AGG
AUA
AGA & AGG
AUA
UGA
CUN*
AUA
UGA
UGA
CGG
UAA & UAG
UGA
Ngha ph bin
Kt thc
Arginine
Isoleucine
Arginine
Isoleucine
Kt thc
Leucine
Isoleucine
Kt thc
Kt thc
Arginine
Kt thc
Kt thc
Ngha mi
Tryptophan
Serine
Methionine
Kt thc
Methionine
Tryptophan
Threonine
Methionine
Tryptophan
Tryptophan
Tryptophan
Glutamine
Tryptophan
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Dihydrouridine
Pseudouridine
1-methyladenosine
2-thiocytidine
1-methylguanosine
5-methylcytidine
7-methylguanosine
Ribothymine
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-30
-10
Promoter
+1
prokaryote
mRNA
PuPuPuPuPuPuPuPu
AUG
-30 region
TTGACA
AACTGT
-10 region
TATAAT
ATATTA
-36
-12
-7
Pribnow box
-31
T T G AC A
TATA AT
82 84 79 64 53 45%
79 95 44 59 51 96%
+1
mRNA
+20
consensus
cc trnh t
iu ha
sequences
Cc nhn t phin m c th-trt DNA
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chp 5'm7Gppp
Trnh t m ho
sau khi loi b
cc intron
ui poly(A)
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1. lp chp 5'
2. lp ui poly(A)
Chp 5'm7Gppp
ui poly(A)
intron b ct b
(thng lng)
ct pha
5'exon
ct pha 3'exon
v splicing
imct 5'
im ct 3'
ni cc u 5' v
3' ca cc exon
mRNA
trng thnh
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vng m ha 3'-UTR
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Lin kt hydro
gia cc cp base
Anticodon
R 70S vi khun
rRNA: 16S
Protein: 21 phn t
rRNA: 23S + 5S
Protein: 34 phn t
18-20 nm
R 80S eukaryote
rRNA: 18S
Protein: >30 phn t
rRNA: 28S +5S +5,8S
Protein: >50 phn t
20-22 nm
Tv ln
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DICH MA
PROTEIN
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Lin kt peptid
D
Chui gm 8
amino acid
Nhn t RF
Bc 2: Ko di (elongation)
Qu trnh ko di bt u sau khi lin kt peptide u tin c hnh
thnh. Phn ng ny c xc tc bi enzyme peptidyl transferase, v kt
qu l to ra mt peptidyl-tRNA v tr A (hnh 6.21B). Sau , ribosome
lp tc chuyn dch sang mt codon mi dc theo mRNA theo chiu
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Protein mi tng hp
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Mt s im cn lu thm:
(1) Trn y mi ch phn tch hot ng ca mt ribosome trn
mRNA. Thc ra, trn mt mRNA c rt nhiu ribosome cng hot ng,
gi l polyribosome hay polysome, to ra nhiu polypeptide ging nhau.
(2) Trn nguyn tc, amino acid m u s c ct b khi chui
polypeptide (sau khi tng hp c vi amino acid nh trong trng hp
cc vi khun) hoc trc khi chui c tng hp y (nh trng
hp eukaryote). Tuy nhin, cc eukaryote khng phi lc no amino acid
m u ny cng b tch b, m trong mt s protein n vn c gi li.
(3) Sau khi c tng hp, cc chui polypeptide s cp ny s c
sa i v chuyn sang cc bc cu trc cao hn theo cch c th tr
thnh cc protein hot ng chc nng (xem cc hnh 6.8 v 6.9).
(4) Tham gia vo cc bc m u, ko di v kt thc cn c cc yu
t protein, vi tn gi tng ng l cc nhn t m u (IF: initiation
factor), nhn t ko di (EF: elongation factor), v nhn t gii phng
(release factor) cng vi ATP, GTP v cc ion nh Mg2+, K+ v NH+4.
(5) Trong cc t bo prokaryote, do khng c mng nhn v cc
mRNA a cistron vn d khng phi qua sa i sau phin m, cho nn
cc ribosome v cc aminoacyl-tRNA s bm vo u 5' ca mRNA
bt u qu trnh dch m ngay trong khi u 3' ca n qu trnh phin
m ang cn tip din. Ngc li, cc t bo eukaryote v c mng nhn
phn cch v cc pre-mRNA cn phi tri qua cc cng on sa i phc
tp sau phin m (tt c u din ra trong nhn), cn dch m din ra sau
trong t bo cht (hnh 6.23). V th cho nn phin m v dch m r
rng l hai qu trnh tch bit nhau c v c khng gian ln thi gian.
Cu hi v Bi tp
1. Ti sao ni gene l khi nim cn bn ca di truyn hc v tht kh
c th a ra mt nh ngha chnh xc? Hy chng minh iu qua
cc giai on pht trin ca di truyn hc cho n nay.
2. Bn hiu g v cc gene phn on (split gene)? Cho th d v s
minh ho. Cc intron l g v c vai tr nh th no? Phn tch mt trng
hp sa i (sau phin m) sn phm ca gene phn on lm sng t
mnh mt gene c th xc nh nhiu hn mt loi polypeptide.
3. (a) Hy lm sng t nhn nh sau: Khc vi cc t bo prokaryote,
s phin m v dch m cc t bo eukaryote l hai qu trnh tch bit c
v khng gian ln thi gian. (b) Qu trnh tng hp v hon thin cc
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Chng 7
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A. iu ha m tnh
im bm
ca repressor
Phin m
Khng phin m
Protein repressor
bm vo
B. iu ha dng tnh
im bm ca
nhn t hot ha
Khng phin m
Phin m
Protein hot ha phin m
bm vo
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[B]
Repressor gn vo operator,
ngn cn phin m
mARN
Repress
or
protein
[C]
Phc hp cht cm ng-cht c
ch khng th gn vo operator
Inducer
Khi khng lactose, RNA polymerase bt
u phin m tng hp protein z, y v a
Lac mARN
galactosidase
Permeas
e
Transacety
lase
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ngn cn phin m.
2. iu ha dng tnh operon lactose
Chc nng ca -galactosidase trong chuyn ha lactose to ra
glucose bng cch ct lactose (mt sn phm ct khc l galactose cng c
th c chuyn thnh glucose nh enzyme ca operon galactose). Nu c
glucose v lactose c mt trong mi trng sinh trng, khng cn hot
ng ca operon lac. Trong mi trng c glucose, enzyme galactosidase khng c to thnh cho n khi glucose trong mi trng
c s sng ht. S c mt ca glucose lm mRNA khng c tng
hp, do khng c s tng hp -galactosidase, v s thm vo nhn t
cm ng lm bt hot cht km hm. Mt yu t khc cn cho s bt u
tng hp mRNA, hot tnh ca yu t ny c iu ha bi nng
glucose.
Glucose c nh hng c ch gin tip ln s biu hin ca operon
lac. Nhng phn t nh adenosine monophosphate vng (cAMP) phn b
rng ri trong m ng vt v trong cc c th eukaryote a bo, c vai tr
quan trng lm cht trung gian hot ng hormone. Cht ny cng c
trong t bo E. coli v nhiu t bo vi khun khc vi chc nng khc
nhau. cAMP c tng hp bi enzyme adenyl cyclase, v nng ca
cAMP c iu ha gin tip qua trao i cht glucose. Khi vi khun
sinh trng mi trng cha glucose, hm lng cAMP rt thp. Trong
mi trng cha glycerol hoc cc ngun carbon khng th i vo con
ng ha sinh c s dng trao i cht glucose (con ng
glycolytic) hoc khi vi khun b i ngun nng lng, nng cAMP
cao. Hm lng glucose gip iu ha nng cAMP trong t bo v
cAMP li iu ha hot tnh ca operon
lac.
E. coli cha protein nhn cAMP
hay CRP (cyclic AMP receptor protein)
cn c gi l protein hot ha d ha
CAP (catabolite activator protein), c
m ha bi gene crp. t bin gene
crp v gene adenyl cyclase lm ngn
cn s tng hp ca mRNA lac. iu
ny cho thy chc nng ca CRP v
cAMP cn thit cho tng hp mRNA Hnh 7.3 Cu trc ca cAMP
lac. CRP v cAMP gn vo mt v tr khc to phc hp cAMP-CRP c
biu hin. Phc hp ny l mt yu t iu ha hot ha h thng lac.
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Tng hp ca mRNA
l
khng
Repressor
khng
Phc hp
cAMP-CRP
C
Phin m
khng
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trp E
trp D
trp C
Phin m
Aporepressor
Aporepressor khng
bm vo operator
Phin m b c ch
trp P
trp O
trp L
trp E
trp D
trp C
Khng phin m
Phc hp Tryptophanaporepressor bm vo
operator v c ch phin m
Tryptophan
Hot ha aporepressor
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4. Phin m d (Attenuation)
Kiu iu ha th hai c pht hin operon tryptophan c gi l
attenuation. N dng s dch m iu khin s phin m. Khi c mt
tryptophan ni bo, ngay c vi nng thp, s dch m mt phn vng
leader ca mRNA ngay khi va c tng hp, kt qu lm dng s phin
m trc khi gene cu trc u tin ca operon c sao chp.
[A
]
[B
]
Kt
thuc
phin
ma
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trp
codons
S kt cp trong
RNA nng
thp ca
tryptophan
Kt thc
phin m
RNA
polymerase
S kt cp trong
RNA nng cao
ca tryptophan
S kt cp
trong mRNA
Phin m
tip tc
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Enhancers
Untranslated
leader
Promotor
Introns
Exons
Vng 3
Enhancers
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Qu trnh ch bin
t bo gan
B. Bn phin m s cp
Phin m
amylase ca
tuyn nc bt
Qu trnh ch
bin t bo
tuyn nc bt
mRNA amylase ca
tuyn nc bt
Cu hi v Bi tp
1. S biu hin gene prokaryote v eukaryote c c im g?
2. Hy nu cc kiu iu ha ch yu.
3. Trnh by c ch hot ng ca operon lactose.
4. Operon l g? Nu ngha ca operon i vi s biu hin ca
gene.
5. Gene m ha cho cht c ch (repressor) ca operon vi khun c
cn thit phi gn gene cu trc khng? Ti sao?
6. So snh iu ha m tnh v iu ha dng tnh ca phin m.
Cho v d.
7. Khi c mt glucose trong t bo E. coli, nng cAMP-CRP nh
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Chng 8
t bin gene, Ti t hp v cc Yu t Di
truyn Vn ng
I. t bin gene
t bin gene l nhng bin i xy ra bn trong cu trc gene. Mi
t bin gene dn n s thay i trnh t nucleotide to ra cc allele khc
nhau. t bin gene c th xy ra do bin i ca trnh t nucleotide trong
gene. t bin gene khng pht hin c khi quan st t bo hc.
Trong t nhin, tt c cc gene u c t bin c gi l t bin t
nhin hay ngu pht (spontaneous mutation). Cc t bin t nhin
thng xut hin rt t.
1. Cc kiu t bin gene
t bin gene hay t bin im: l cc bin i rt nh trn mt
on DNA, thng lin quan n mt cp base n ca DNA hoc mt s
t cp base k nhau. t bin im lm thay i gene kiu di (wild-type
gene),. Thc t t bin im hu nh lm gim hoc lm mt chc nng
ca gene hn l lm tng cng chc nng ca gene.
V ngun gc, t bin im c phn ra lm t bin ngu pht
(spontaneous) v t bin cm ng (induced).
t bin cm ng: l dng t bin xut hin vi tn s t bin tng
ln khi x l c mc ch bng tc nhn t bin hoc tc nhn mi trng
c bit. t bin ngu nhin l t bin xut hin khi khng c s x
l ca tc nhn t bin. t bin ngu nhin c tnh l t l c s ca
t bin v c dng c chng ngun bin d di truyn t nhin
trong qun th. Tn s t bin ngu nhin thp nm trong khong 10-5 10-8, v vy t bin cm ng l ngun t bin quan trng cho phn tch
di truyn.
Tc nhn t bin c s dng ph bin l ngun chiu x nng
lng cao (high-energy radiation) hoc cc ha cht c bit.
Cc dng t bin im: c hai dng t bin im chnh trong phn
t DNA:
+ t bin thay th cp base (base substitution)
+ t bin thm-bt cp base (base insertion - base deletion)
Cc t bin ny c th pht sinh do nh hng ca mi trng nh
nh hng ca cc tc nhn gy t bin.
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Kt qu v v d
Purine c thay th bng mt purine khc,
pyrimidine c thay th bng mt pyrimidine
khc: AT GC, GC AT, CG TA,
TA CG
o hon
Thm/Mt
(Insertion-deletion)
mc protein
t bin ng ngha
Loi khng bo th
AAA AGA
Lys
Arg
(kim)
(kim)
M ho cho amino acid khc v bn cht ho
hc:
UUU
UCU
Phenylalanin
Serine
K nc
Phn cc
t bin v ngha
Thm vo mt cp base:
AAG ACT CCT AAG AGC TCC T...
Mt mt cp base:
AGG CGG
Arg
Arg
CAG UAG
Gln
Stop
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Gene kiu di
t bin thay
th base
t bin dch
khung
Protein iu ha khng th bm
im t bin trong
trnh t khng m
ha
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Dng keto ph
bin ca 5BU
Adenine
Dng keto ph
bin ca 5BU
Dng enol
him ca 5BU
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B khung DNA
nh sng
trng
Tia cc tm
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uvrABC exonuclease ct b on
DNA 12 nucleotide
Ligase ni
ch h
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- c sa i vi cc base bt cp sai
C ch c sa i vi cc base bt cp sai (proofreading for basepair matching) c thc hin trong sao chp DNA. Trong qu trnh sao
chp, trc khi thc hin phn ng polymer ha ni cc nucleotide, cc
nucleotide triphotphate mi phi bt cp b sung vi mch khun. Nu s
bt cp sai xy ra, DNA polymerase s loi b nucleotide bt cp sai.
Ngay c trc khi nucleotide mi rp vo, enzyme d li cp base cui,
nu chng khng bt cp th s polymer ha tip theo b dng. Cp
nucleotide u cui 3' bt cp sai s b loi b nh hot tnh
exonuclease3'5' ca DNA polymerase. Khi bt cp ng, qu trnh
polymer ha mi c tip tc.
Hot tnh c sa i vi cc base bt cp sai l c tnh ca nhiu
DNA polymerase m bo cho s ko di chnh xc ca mch ng c
tng hp.
+ Sa sai da vo tnh tng ng (Homology-dependent repair
system)
Mt h thng sa sai quan trng pht hin tnh cht b sung i
song song ca 2 mch n DNA phc hi on sai hng tr li trng
thi bnh thng ban u. Trong h thng ny, on DNA sai hng b ct
b v thay bng mt on nucleotide mi c tng hp b sung vi si
khun i din. S sa sai xy ra qua si khun v nguyn tc ca sao
chp DNA bo m s sa sai hon thnh vi chnh xc cao - l s
gii phng sai hng (error-free). C 2 h thng ch yu loi b sai
hng: H thng sa cha sai hng pht hin ra trc khi sao chp v h
thng sa cha sai hng pht hin trong qu trnh din bin sao chp (sa
sai sau sao chp).
+ Sa sai t mch kp (repair of double-strand break)
Khi c 2 si ca chi xon kp b t cng mt v tr, c gi l
t bin t mch i, c th gy ra sai hnh nhim sc th, lm cht t
bo hoc to ra trng thi tin ung th. T bo s dng nhiu protein v
con ng sa sai t gy mch i l thc hin ti t hp trong gim
phn. Qu trnh sa cha do trao i cho trong gim phn xy ra nh sau
(Hnh 8.7):
Trn mt nhim sc th xy ra s t mch i v kt qu n mn cc
u mt on ngn ca DNA si n. u 3' ca mt trong nhng si
ny "xm ln" vo mt chromatid.
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chromatid a
chromatid A
S b gy si i
v ct u cui
S b gy, xm ln
v to vng
S di chuyn
vng v tng hp
Cu trc Holliday
Lp y khong trng
v lin kt cc u t
Heteroduplex vi
ch ghp nhm
B gy v ni u
2 vi u 3
Sa cha A
B gy v ni
u 2 vi u 4
Sa cha A
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Chiu
di (bp)
on lp li o
ngc (bp)
IS1
768
18-23
IS2
1327
32-41
IS3
1400
32-38
IS4
1400
16-18
IS5
Cha bit
1250
Ngn
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Transposase ct on
DNA mc tiu
Yu t transposon
xen vo
Lm y cc ch
trng
Yu t lp li trc tip 5
cp base 2 u
Hnh 8.9 S nhn i on trnh t DNA ngn im xen vo.
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Bn sao Ty1
xen vo
Dch m
Phin m ngc
Enzyme phin m ngc
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Cu hi v Bi tp
1. V sao phn ln cc t bin nh hng n cc gene cu trc
thng l ln so vi cc allele hoang di?
2. S hnh thnh t bin dch khung din ra nh th no?
3. Cc ha cht gy t bin c c im g?
4. Gii thch c s t bin ca cc tc nhn gy t bin sau: 5bromuracil, acid nitr v acridin. Xc nh xem chng to ra dng t bin
no (ng hon, o hon hay dch khung)?
5. Hy m t mt loi sai hng ngu nhin dn n t bin.
6. Phn tch s ging nhau v khc nhau gia cc kiu transposition.
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mRNA
Hy cho bit: Amino acid no s c tm thy codon c nucleotide
b thay i nh trn?
10. bp, tn s t bin ca locus R (mu cy) rt cao: 492 t bin
trn 106 giao t. Gene to mu ca ni nh Pr c tn s t bin l 11
t bin trn 106 giao t. Hy cho bit: Cn phi phn tch bao nhiu cy
mi tm c 1 t bin kp ca 2 gen trn?
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Chng 9
Di truyn T bo cht
I. S di truyn t bo cht
1. S di truyn ca cc gene lp th
Trong s th phn ca thc vt bc cao, mt t bo trng c kch
thc ln c nhiu t bo cht phi hp vi nhn ca ht phn khng c t
bo cht chung quanh. Do hp t nhn c phn ln t bo cht ca
t bo trng. Nu hai b m c thnh phn nguyn liu di truyn trong t
bo cht khc nhau th th h con s nhn c nhiu nguyn liu di
truyn trong t bo cht ca m. Do s xy ra s di truyn theo th h
m.
Hin tng di truyn l m c pht hin rt sm Mirabilis
jalapa (Correns, 1908), Pelargonium zonale (E.Bauner, 1909). Cc cy
c l m c th c nguyn cnh vi l trng khng c chlorophyll.
Th nghim: Tp giao gia cy Mirabilis jalapa c nhng cnh khm
trng xanh theo cc php lai nh sau:
- Th phn cho hoa trn cnh l trng bng ht phn ca hoa trn
cnh l xanh lc, cho th h con nhng cy ging c th m c l trng
khng c chlorophylle. Cc cy ny cht v khng c kh nng quang hp
- Tp giao hoa trn cnh l xanh lc bng ht phn ca hoa trn cnh
l trng, tt c th h con c l mu xanh lc bnh thng.
- Nu th phn cc hoa ca cnh l m bi phn hoa ca cy xanh
lc th i con c cc c th l trng, l m v l xanh lc.
- Nu th phn cho ha ca cnh l xanh lc vi phn hoa cy l m
th i con gm ton c th l xanh lc.
* Gii thch: Trong trng hp ny ngi ta thy nhng cht c s
hnh thnh lp th c trong t bo trng s hnh thnh tin lp th, sau
hnh thnh lc lp. Ht phn khng c cht c s hnh thnh lp th nn
ht phn khng th truyn lc lp c. S khc nhau gia con ci v b
m v mt hoc nhiu tnh trng khi tp giao thun nghch chng t c s
tham gia ca nguyn liu di truyn trong t bo cht. S di truyn theo
h m quy nh s th hin tnh trng ph thuc vo c th m.
thc vt Pelargonium zonale c trng hp di truyn theo dng
cha. Nu hoa ca cy l m c th phn ca cy l xanh lc th 30%
cy lai c l m, 70% l xanh lc. Khi lai hon i cha m th 70% cy
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Cy bt th c,
ht phn mt
chc nng
Th h th ba ca
lai ngc vi
ging bt th c
T bo cht
c di truyn
theo dng m
Ht to thnh
do lai ngc
ln th nht
Ging bt th c
3/4 gene l
ca ging
hu
Ht to thnh
do lai ngc
ln th hai
7/8 gene l
ca ging
hu th c
Ht to
thnh do lai
ngc ln
th ba
Bt th c trong trng hp
ny l kt qu ca di truyn t
bo cht
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Kiu gene
Rfrf
Rfrf
RfRf hoc Rfrf
RfRf hoc Rfrf
kiu bo gene
S (bt dc)
N (hu dc)
N
S
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Xon tri
Xon tri
Xon phi
T phi
T phi
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II. Lp bn ty th v lp th
1. Lp bn gene ca DNA lp th
Cc gene ca lc lp Chlamydomonas reinhardii
S di truyn lc lp c nghin cu chi tit hn c vi to
Chlamydomonas reinhardii. T bo ca vi to ny c mt lc lp ln vi
ng knh trung bnh 5 m cha 50 n 80 bn sao ca phn t DNA
vng trn di 196 kb.
Theo Sager (1975), Chlamydomonas reinhardii c cc t bin
trong nhm lin kt gene ca lc lp. Cc t bin c biu hin kiu hnh
nh sau:
- Mt kh nng quang hp mc c ngoi nh sng v trong ti
cn b sung ng kh l acetat
- Nhy cm vi nhit cao hoc thp
- Tnh khng vi thuc khng sinh hoc c nhu cu c cung cp
thuc khng sinh.
Tt c cc t bin trn c s di truyn theo mt cha m, c kiu bt
cp mt+ (c th coi l dng m). iu ny lin quan n s hnh thnh lc
lp trong hp t, bng cch no , ch nhn DNA t lc lp mt+.
Nm 1954, R. Sager nghin cu cc t bin khng streptomycin
C. reinhardii t dng hoang di nhy cm sm-s. Mt s t bin sm-r c
s di truyn nhim sc th vi s phn ly 1 : 1. Tuy nhin mt s t bin
c s di truyn khc thng nh sau:
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Phin m ca si nng
Nhng trnh t
n m ha cho
amino acid trn
tRNA
mtDNA ca ngi
Kt qu t bin
tRNALys vng
MERRF
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enzyme hn ch.
Nh vy, vic nghin cu cc gene ca ty th cho thy t bo
eukaryote khng lc lp c t nht 2 h thng sinh tng hp protein c
lp tng i nhng lun hp tc cht ch vi nhau. cc eukaryote c
lc lp th 3 h thng sinh tng hp protein c lp tng i nhng hp
tc vi nhau. C 2 bo quan ty th v lc lp tham gia trc tip vo chuyn
ha nng lng ca t bo.
Di truyn t bo cht l hin tng di truyn do cc gene nm trn
nhim sc th ngoi nhn quy nh.
Cu hi v Bi tp
1. Hy nu cc kiu t bin ca ty th.
2. Trnh by chng minh thc nghim v di truyn lp th.
3. So snh s ging nhau v khc nhau ca mtDNA v cpDNA.
4. Nu c ht bp t dng bt thu c, lm sao xc nh s bt th do
gene trong nhn hay ngoi nhn?
5. Nu cc c im ring ca di truyn ngoi nhim sc th v nu
cc sai khc c bn so vi di truyn ca gene nhn.
6. Hy phn bit hiu qu dng m vi s di truyn ngoi nhn.
7. Hy phn bit cc loi t bin petite nm men.
8. Cho 2 dng bp bt dc c: mt dng bt dc bo cht, mt dng
bt dc do gene nhn di truyn theo Mendel. Hy trnh by phng php
xc nh hai dng bt dc trn.
9. Mt con c loi Limnaea peregra c v xon tri qua t phi cho
tt c th h sau xon phi. Hy xc nh genotype ca con c ny. Nu
th h sau cho t phi ring r, hi chiu xon v ca cc con c th h
ny nh th no?
10. T l tin ha DNA ca ty th c tnh bng s bin i 1
nucleotide ca 1 ty th trong thi gian 1.500 n 3.000 nm. DNA ty th
ngi c khong 16.500 nucleotide. Hi t l bin i ca 1 nucleotide
trong 106 nm l bao nhiu?
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Chng 10
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cc on DNA ni
cc u dnh
u dnh
u dnh
+ DNA ligase
DNA ti t hp
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Tn enzyme
AluI
BamHI
EcoRI
HindII
HindIII
NotI
PstI
SmaI
XmaI
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cc khi im ti bn
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DNA c ct
vi EcoRI
Cc u dnh
Ti t hp DNA
+ DNA ligase
Ni sai
DNA
ti t hp
Ni sai
Hnh 10.3 Hai phn t DNA khc nhau c ct bi cng mt enzyme gii
hn th c th ni vi nhau nh xc tc cu DNA ligase.
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Plasmid
ti t hp
Bin np
T bo ch
E. coli
T bo c bin np
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dng cho nghin cu hoc cho sn xut trn quy m cng nghip mt s
lng ln cc protein vn l nhng ch phm y-sinh hc no .
2. Quy trnh to dng gene ti t hp
By gi ta xt mt quy trnh k thut to dng m vic pht hin DNA
ti t hp da trn kh nng khng thuc do vector plasmid mang li.
Bc 1: Tinh chit DNA
Gi s tinh chit c plasmid c cha hai gene khng ampicillin
v tetracyclin, k hiu l AmpR v TetR; v cng gi thit rng gene TetR
c cha im ct ca EcoRI, v phn t DNA ngi c mang gene insulin.
Bc 2: Kin to phn t DNA ti t hp in vitro
Trc tin, dng enzyme gii hn u dnh EcoRI (xem bng 10.1)
ct vng plasmid ti gia gene TetR v cho ct DNA ngi, trong s cc
on b ct c mt on mang gene insulin. Sau em trn ln hai loi
DNA trn trong ng nghim vi DNA ligase. Kt qu l c th xy ra ba
trng hp: (1) Plasmid t ni li thnh mch vng nh lc u; (2) on
DNA t ni li thnh mch vng; v (3) Plasmid ti t hp c mang gene
insulin, v c th mang mt on DNA khng phi gene .
Bc 3: Bin np v pht hin dng DNA ti t hp chung
a cc DNA c x l vo cc t bo E. coli. Nu phn t c kch
thc ln ngi ta phi x l vi khun 'th nhn' bng chlorid calcium
(CaCl2) lm cho mng tr nn thm c d dng. Sau em cy
ring r cc vi khun trn mi trng c ampicillin v theo di.
+ Nu c xut hin khun lc (cc vi khun trong cng mt khun lc
th thuc mt dng v chng bt ngun t mt vi khun ban u), chng t
vi khun c mang gene AmpR, tc l chng c mang plasmid ban u
(trng hp 1) hoc plasmid ti t hp (trng hp 3). Ngc li, nu ch
cy khng xut hin khun lc, chng t vi khun mang DNA t ni
(trng hp 2).
+ K , em cy ring r cc vi khun thu c sang mi trng c
tetracyclin. Nu c xut hin khun lc, chng t vi khun c mang gene
TetR nguyn vn (trng hp 1). Nu khng c khun lc, chng t vi
khun em cy c mang DNA ti t hp (trng hp 3); v gene TetR b
bt hot do on DNA xen vo. Bng cch theo di nh vy cho php xc
nh c dng vi khun mang DNA ti t hp, nhng vn cha bit c
u l cc dng c hiu, ngha l c mang gene insulin.
Hnh 10.5 di y m t mt quy trnh n gin v to dng vi khun
mang gene insulin ngi.
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DNA ngi
gene TetR
gene insulin
gene
AmpR
cc u dnh
Lai ho
+ DNA ligase
Bin np
T bo
vi khun
t cc vi khun ln mi trng
c b sung ampicillin
NST
vi khun
To dng
Nui cy
Dng
Tinh chit
DNA
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T bo + pUC19 T bo khng
+ on xen
c bin np
(a)
Cc khun lc xanh:
ch c pUC19
Cc khun lc trng:
pUC19 + on xen
Mi trng
+
ampicillin
+
X-gal
Mng
(b)
Cc dng chn lc
Mng
Phim tia X
(c)
Hnh 10.6 Xc nh cc dng vi khun mang plasmid c xen mt on
DNA (gene) c hiu bng vt d phng x l mRNA - sn phm ca n.
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DNA ngi
DNA cn to dng
v DNA plasmid
c ct bi cng
enzyme gii hn
vector YAC
ct tng phn
u dnh
cc on NST ln
u dnh
Cc plasmid cha cc
on xen khc nhau
u dnh
Ti t hp
+ DNA ligase
Nhim sc th nm men nhn to xen DNA ngi
vi khun c bin np vi
hn hp hoc cc plasmid
nui cy vi khun ch
lln ti 1.000.000 bp
Bin np vo t
bo nm men
Dng
mi dng l mt 'volume'
trong th vin gene
(a)
(b)
Hnh 10.7 Xy dng th vin gene hay th vin b gene (gene or genomic
library) bng cc th nghim to dng plasmid ti t hp vi khun (a) v
s dng nhim sc th nm men nhn to, YAC (b).
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insulin insulin
Plasmid
ti t hp
chuyn gene
insulin insulin
(a)
(b)
Hnh 10.9 (a) H. Boyer (tri) v S. Cohen; v (b) s th nghim to dng
v biu hin gene insulin ngi vi khun E. coli.
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on trc sinh mc gene nh phn tch DNA bng enzyme gii hn.
T y m ra hai hng chnh trong chn on gene l: chn on cc
bt thng bm sinh v chn on cc bt thng DNA soma. Mt s
thnh tu khc t c theo hng u gm c: bnh hemophilia A, ri
lon dng c Duchenne, hi chng X-fragile, bnh retinoblastoma - mt
dng ung th vng mc...Theo hng sau, ngi ta p dng i vi mt
s dng ung th mu nh cc lympho Burkitt, lympho nang, bnh bch
cu...ng k l gn y, ngi ta xc nh c nhiu gene gy bnh
quan trng ngi, nh: gene gy bnh ha x nang (cystic fibrosis) nm
1990, gene gy bnh Huntington nm 1993...
Liu php gene (gene therapy) cng l mt phng thc sn xut v
iu tr mi bng cc phn t tr liu. y l hng c nhiu trin vng
nht nhng kh thc hin nht v n c lin quan n c vn phng
php lun ln kha cnh o l. S kin ni bt nht l vo nm 1990-91,
W.F.Anderson, R.M.Blaese v Ken Cuver thc hin thnh cng ca liu
php gene u tin trn mt b gi bn tui mc bnh suy gim min dch
phi hp (SCID) vi s thiu ht adenosine deaminase (ADA), mt
enzyme cn thit cho sn xut cc khng th trong cc t bo h mim
dch, gi l hi chng "bubble-boy" (bnh do gene gn u mt vai ngn
nhim sc th s 20 gy ra). Mt khc, liu php gene cng m ra
nhng trin vng to ln trong cha tr cc cn bnh ph bin nht, tc
ng ti hng triu triu ngi trn hnh tinh nh: ung th, SIDA/AIDS,
vim gan do virus, cc bnh tim mch, cc bnh thoi ha thn kinh (bnh
Parkinson, bnh Huntington, bnh Alzheimer...) hay c nhng bnh mn
tnh nh a thp khp.
2.3. K thut di truyn vi hnh php hc v mt s vn x hi khc
K thut di truyn cn c ng dng rt hiu qu trong cc ngnh
hnh php hc, chng hn bng cch s dng k thut 'du vn DNA'
(DNA fingerprinting) thay cho 'du vn tay' trc y cho php cc ngnh
cnh st hnh s xc nh chnh xc cc ti phm hoc nhn dng xc nn
nhn trong chin tranh hoc do tai nn gy ra (hnh 10.10).
Hnh 10.10 Du vn DNA (DNA fingerprinting) c th gip cc nh nghin cu
xc nh kh nghi trong trng hp ti
phm. Kiu vch ngang biu th bn cht
di truyn ca mt ngi. mu ny cho
thy cc bng ca mu ngi mang m s
S2 kh nghi trng khp vi bng chng,
mu mu E(vs).
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Tinh chit
gene
Tim
cc trng chut
i con
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Cu hi v Bi tp
1. Th no l enzyme gii hn? Chng c nhng tnh cht no m
c coi l cng c thit yu i vi cng ngh DNA ti t hp? Bng hai
v d v enzyme gii hn, hy chng t rng t nht c hai phng php
thnh lp cc phn t DNA ti t hp in vitro.
2. T cc enzyme gii hn BamHI, EcoRI v HindIII Bng 10.1 v
BglII c on ch c bit l AGATCT, hy cho bit cp enzyme no
s to ra cc u dnh hay u b sung (sticky/complementary ends) tng
thch? Trnh t ca u dnh tng thch ny l g?
3. Gi s bn ct hai DNA khc nhau, mt vi BamHI v mt vi
BglII, sau ni chng li vi nhau thng qua cc u dnh tng thch.
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khoa hc ca cng ngh sinh hc". Trong: Chuyn Cng ngh Sinh hc
(Ti liu BDTX gio vin THPT chu k 1997-2000; bin son chung vi
Nguyn B Lc v Bin Vn Minh). Trang: 56-96. Trng HSP Hu.
Ting Anh
Vu Trieu An 1999. Mitochondrial DNA polymorphism in the Vietnamese
population. Eur. J. of Immunogenetics, 26: 471-422.
Campbell NA, Reece JB. 2001. Essential Biology. Benjamin/Cummings,
an imprint of Addison Wesley Longman, Inc, San Francisco, CA.
Collins FS, Green ED, Guttmacher AE DNA Guyer MS. 2003. A Vision
for the Future of Genomics Research. Nature, Vol.422, No.6934, p.835-847.
Hartwell, Hood, Goldberg, Reynolds, Silver, Veres. 2004. Genetics From Genes to Genomes. 2nd Edition. McGraw Hill, Inc., New York.
Lewis R. 2003. Human Genetics: Concepts DNA Applications. 5th ed,
McGraw-Hill, Inc, NY.
Palladino MA. 2002. Understanding the Human Genome Project.
Benjamin/Cummings Publishing Company, Inc, Menlo Park, CA.
Watson JD, Hopkins NH, Roberts JW, Steitz JA, Weiner AM. 1987.
Molecular Biology of the Gene. 4th ed, Benjamin/Cummings Publishing
Company, Inc, Menlo Park, CA.
Watson JD, Gilman M, Witkowski J, Zoller M. 1992. Recombinant DNA.
2nd ed, Scientific American Books, New York.
Weaver RF, Hedrick PW. 1997. Genetics. 3rd ed, McGraw-Hill
Companies, Inc. Wm.C.Browm Publishers, Dubuque, IA.
Mt s trang web
Agricultural Biotechnology
http://www.aphis.usda_gov/biotechnology/
http://www.agbioworld.org
Online Mendelian Inheritance in Man (OMIMTM):
http://www.ncbi.nlm.nih.gov/Omim/mimstats.html
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
National Human Genome Research Institute (NHGRI):
http://www.ncbi.nlm.nih.gov/genome/guide/human
The Institute for Genomic Research: http://www.tigr.org
Celera Genomics Corp.: http://www.celera.com
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Chng 11
Di truyn hc Ngi
I. Cc phng php nghin cu di truyn hc ngi
1. Phng php phn tch ph h (Genealogy analysis)
Phng php phn tch ph h c s dng nghin cu s di
truyn cc tnh trng ngi thuc cng dng h, xc nh c tnh trng
hoc bnh no l tri hay ln..., do mt hay nhiu gene qui nh, c tnh
cht di truyn hay khng, di truyn c lp hay lin kt vi gii tnh..., kh
nng mc bnh ca cc th h tip theo. Trong mt s trng hp cn xc
nh c ngi d hp t mang gene bnh. Phng php ny kt hp vi
cc xt nghim khc cho php c th rt ra nhng li khuyn v di truyn
chnh xc v hu ch cho cc gia nh v vic sinh con hoc kt hn.
Phng php ny c p dng khi bit c cc t tin trc tip v
con chu ca ngi bnh qua nhiu th h.
Mt s k hiu dng lp ph h
Nam bnh thng
Nam bnh
N bnh thng
N bnh
Cp v chng
Cht
y
II
1
III
Cc con
lit k t
tri sang
phi theo
trnh t
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gc.
5. Cc k thut sinh hc phn t
Cc thnh tu to ln trong nhng nm gn y v lnh vc Di truyn
hc ngi, c bit l thnh tu gii m b gene ngi t c l nh s
dng cc k thut sinh hc phn t nh tch chit, phn tch nh tnh v
nh lng nucleic acid; cc phng php lai phn t: Southern blot,
Northern blot, lai ti ch (in situ hybridization),... ; cc phng php xc
nh trnh t nucleic acid; to dng (cloning); xy dng th vin b gene,
th vin cDNA; phng php PCR (polymerase chain reaction); Sinh tin
(Bioinfomatics),...
Ngoi cc phng php trn ngi ta cn s dng cc phng php
nghin cu m phng hc, phng php in v phn tch np vn da,
phng php iu tra dch t hc v phng php di truyn lm sng...
trong nghin cu Di truyn hc ngi.
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V. Di truyn y hc
1. Cc bnh di truyn do ri lon chuyn ho v cc bnh nhim sc th
1.1. Cc bnh di truyn do ri lon chuyn ho
1.1.1. Phenylketonuria (PKU)
PKU l mt d tt bm sinh, c di truyn do gene ln Mendel.
PKU c Phelling pht hin ln u tin vo vo nm 1934.
Tr s sinh b bnh ny l do t bin gene, gan khng c kh nng
tng hp phenylalanine hydroxylase nn dn n tnh trng khng ch km
hm s chuyn ho phenylalanine thnh tyrozine m cn gy ra ng
phenylalanine trong mu, lm tng s phn gii phenyalanine thnh axit
phenylpyruvic, cng b tch t trong mu. C phenylalanine v
phenylpyruvic khi ln no nhiu s u c t bo thn kinh. Bn thn
nc tiu thi ra cng c phenylalanine.
Nu t bin gene ln xy ra mt khu khc lm km hm hot
ng ca enzyme tyrozinase, l enzyme xc tc phn ng chuyn ho
tyrozine thnh melanine dn ti bch tng.
Nhiu nc ngy nay t ra th tc chn on cho mi tr s
sinh, pht hin sm dng ng hp PKU cho n khu phn king c
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Cu hi v Bi tp
1. Mt cp v chng c mt a con b bnh u x nang. y l mt
bnh him gp, c quy nh bi mt t bin lndi truyn theo nh lut
Mendel. Cp v chng ny d nh sinh thm con. Hy tnh xc sut
a cob tip theo: (a) Mang gene bnh; (b) Khng b bnh.
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Chng 12
Di truyn hc Qun th
Ln u tin vo nm 1908, G.Hardy v W.Weinberg chng minh
rng tnh di truyn t n khng lm thay i tn s allele trong qun th,
sau ny c gi l nguyn l Hardy-Weinberg (Hardy-Weinberg
principle). N t nn mng cho di truyn hc qun th (population
genetics) - mt nhnh ca di truyn hc - nghin cu thnh phn di truyn
ca cc qun th sinh vt v cc qu trnh nh hng ln cc tn s gene
ca chng. Tuy nhin, n u thp nin 1930 lnh vc nghin cu ny
mi thc s pht trin nh cc cng trnh v i ca R.A.Fisher, J.B.S.
Haldane v S.Wright m thc cht l cc m hnh ton hc. T di
truyn hc qun th tr thnh nn tng ca cc thuyt tin ho hin i.
Trong chng ny, chng ta s tho lun mt s khi nim c bn ca
di truyn hc qun th, nguyn l Hardy-Weinberg v mi quan h gia
cc tn s allele v kiu gene trong cc trng hp khc nhau, ni phi v
s gia tng tn s ca cc th ng hp, v tm hiu s lc vai tr ca cc
nhn t tc ng ln thnh phn di truyn qun th.
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S lng
Tn s kiu gene
MN
M M
M N
N N
L L
L L
L L
Tn s allele
LM
LN
Btc Navaho
305
52
0,845
0,144
0,011
0,917 0,083
Th dn c
22
216
492
0,030
0,296
0,674
0,178 0,822
0,292
0,496
0,213
0,539 0,461
M gc u
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Tns
gt c
Tn s giao t ci
p(A1)
q(A2)
p(A1)
p2(A1A1)
pq(A1A2)
q(A2)
pq(A1A2)
q2(A2A2)
1.3. Cc mnh v h qu
(1) Nu nh khng c p lc ca cc qu trnh tin ho (t bin, di
nhp c, bin ng di truyn v chn lc), th cc tn s allele c gi
nguyn khng i t th h ny sang th h khc. y l mnh chnh
ca nguyn l hay nh lut H-W.
(2) Nu s giao phi l ngu nhin, th cc tn s kiu gene c quan h
vi cc tn s allele bng cng thc n gin: ( p+q )2 = p2 + 2pq + q2 =1.
(3) H qu 1: Bt lun cc tn s kiu gene ban u (P, H, Q) nh th
no, min sao cc tn s allele hai gii l nh nhau, ch sau mt th h
ngu phi cc tn s kiu gene t ti trng thi cn bng (p2, 2pq v q2).
(4) H qu 2: Khi qun th trng thi cn bng th tch ca cc tn s
ng hp t bng bnh phng ca mt na tn s d hp t, ngha l:
(2 pq ) 2
p2.q2 = [
]
2
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A1A1 (P)
A1A2 (H)
A2A2 (Q)
A1A1
(P)
A1A2
(H)
A2A2
(Q)
P2
PH
PQ
PH
H2
QH
PQ
QH
Q2
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i con
A1A1
A1A2
A2A2
A1A1 A1A1
P2
P2
A1A1 A1A2
2PH
PH
PH
A1A1 A2A2
A1A2 A1A2
2PQ
H2
H2
2PQ
H2
H2
A1A2 A2A2
A2A2 A2A2
2HQ
Q2
HQ
HQ
Q2
Tng
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A1A1
A1A1
A1A1
A1A2
A1A2
A2A2
Tng
x
x
x
x
x
x
A1A1
A1A2
A2A2
A1A2
A2A2
A2A2
Tn s
S lng
Quan st K vng
2
Quan st
2
K vng
P
2PH
2PQ
H2
2QH
Q2
p .p
2(p2)(2pq)
2(p2)(q2)
(2pq)(2pq)
2(2pq)(q2)
q2.q2
P .N/2
2P.H.N/2
2P.Q.N/2
H2.N/2
2Q.H.N/2
Q2.N/2
p2.p2.N/2
2(p2)(2pq)N/2
2(p2)(q2)N/2
(2pq)(2pq)N/2
2(2pq)(q2)N/2
q2.q2.N/2
N/2
N/2
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pi = pii +
Pij
i j =1
Ta c f(A+0) = p +2pr + r = (p + r)
p+r =
p=
f ( A + 0)
f ( A + O) r
Tng t, ta c :
Phng php 2
2
V p +q +r = 1 q +r = 1 p
Bnh phng 2 v ta c:
(1 p)2 = (q + r)2 = f (B + O)
1p=
f ( B + O)
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q=
f ( B + O) r
p=1
f ( B + O)
Tng t, ta c: q = 1
f ( A + O)
Kiu gene
A
B
O
AB
IAIA + IAIO
IBIB + IBIO
IOIO
IAIB
Tng
Tn s
K vng
Quan st
p2 + 2pr
q2 + 2qr
r2
2pq
0,41716
0,08560
0,46684
0,03040
1,0
Allele
Tn s
Phng php 1
Phng php 2
IA
IB
IO
0,2569
0,0600
0,6833
0,2567
0,0598
0,6833
Tng
1,0002
0,9998
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Tn s
Gii c
Gii ci
A1
A2
p
q
p
q
Tng
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Quan st
K vng
2(1) = 4,6
Kiu gene
BB
277
273,2
P = 0,04
BO
54
61,2
Tng
OO
7
3,4
338
338
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0
1
2
...
n
AA
0
1/4
3/8
1 1/ 2n
2
1/2
Aa
1
1/2
1/4
1/2
0
Tn s allele
H s ni phi
aa
0
1/4
3/8
a
0,5
0,5
0,5
(F)_______
0
1/2
3/4
1 1/ 2n
2
0,5
11/2n
1/2
0,5
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Q = q2 + Fpq
Trong mi phng trnh trn, s hng u l t l H-W ca cc kiu
gene v s hng sau l lch so vi tr s . Lu rng cc c th ng
hp, v d AA, c th hoc l do hai allele ging nhau v ngun gc, ngha
l bt ngun t cng mt allele t tin (s hng Fpq) hoc l do hai allele
ging nhau v loi sinh ra qua ngu phi (s hng p2). ln ca h s
ni phi phn nh lch ca cc kiu gene so vi cc t l H-W; ngha
l, lc F = 0 th cc hp t t t l H-W, v khi F > 0 do c ni phi, th
xy ra s gim thiu cc th d hp v di tha cc th ng hp.
Bng 12.7 Tn s ca cc kiu gene khc nhau khi trong qun th xy ra c
ni phi ln ngu phi
Kiu gene
Ni phi (F)
Ngu phi (1 F)
AA
Fp
(1 F)p2
Aa
(1 F)2pq
aa
Fq
F
(1 F)q2
1F
Tng
Fp + (1 F )p2 = p2 + Fpq
(1 F)2pq
= 2pq 2Fpq
Fq + (1 F)q2 = q2 + Fpq
1
1
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II
III
CA
CA
(a)
Y
Z
(b)
Y
Z
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10
0,694 = 0,964
Suy ra:
m = 0,036
Nh vy, dng gene chuyn t nhng ngi M Capca vo trong qun
th ngi M da en xy ra tc tng ng vi tr s trung bnh
l 3,6% mi th h. Nhng tnh ton tng t bng cch s dng cc tn
s allele nhiu locus khc cho cc kt qu hi khc mt cht. Hn na,
mc pha tp hn chng c th khc nhau cc vng khc nhau ca
nc M; nhng r rng l s trao i gene ng k xy ra (Ayala v
Kiger 1980, tr.644; Hartl et al 1988, tr.214).
4. Chn lc t nhin
C ba qu trnh gy bin i tn s gene xt trn y u c mt
im chung l khng mt qu trnh no nh hng i vi s thch nghi
(adaptation). Theo nhn nh ca mt s tc gi (Mayer 1974; Ayala v
Kiger 1980), cc qu trnh ny l ngu nhin i vi s thch nghi, do
t thn chng s ph hoi t chc v cc c tnh thch nghi ca sinh vt.
Ch c chn lc t nhin (natural selection) mi l qu trnh thc y s
thch nghi v hn ch cc hiu qu ph hoi t chc ca cc qu trnh
khc. Trong ngha , chn lc t nhin l qu trnh tin ha khc lit
nht, bi v ch c n mi c th gii thch c bn cht thch nghi, tnh
a dng (diversity) v c t chc cao ca cc sinh vt.
tng v chn lc t nhin nh l qu trnh nn tng, l ng lc
ca s bin i tin ha do Charles Darwin v Alfred Russel Wallace c
lp a ra nm 1858. L lun tin ha bng chn lc t nhin c
pht trin y , vi chng c ng h xc ng, trong cun Ngun gc
cc loi (The Origin of Species) do Darwin xut bn nm 1859.
Theo Hartl et al (1988, 1997), trn quan im thuyt tng hp hin
i, c th hnh dung chn lc t nhin xy ra da trn ba im chnh: (1)
mi sinh vt, i con c sinh ra nhiu hn s sng st v sinh sn; (2)
Cc c th khc nhau v kh nng sng st v sinh sn v phn ln nhng
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ngu phi, qun th s trng thi cn bng khi tc xut hin t bin
mi bng tc o thi, ngha l u = sq2, hay khi tn s allele ln trong
qun th mc q = u / s . Tng t, i vi allele tri, u = sp hay p = u/s.
V d: Tn s mc bnh PKU tr s sinh l khang 4 trn 100.000;
do q2 = 410-5. Hiu qu sinh sn ca cc bnh nhn khng c cha
tr l zero, hay s = 1. Khi u = sq2 = 4 10-5.
4 x10 5 = 6,310-3
v tn s ca cc th d hp l: 2pq 2q = 2(6,310-3) = 1,2610-2
iu c ngha l, trong 100 ngi c khong 1,3 ngi mang allele ,
mc d c 4 trong 100.000 ngi mc bnh PKU. Tn s ca allele ny c
mt trong cc th d hp bng mt na ca 1,2610-2 hay 6,310-3; v tn
s ca allele cc th ng hp l 4 10-5. Do vy cc allele PKU c
mt trong cc th d hp nhiu hn 6,310-3 / 4 10-5 = 158 ln so vi cc
th ng hp. Nh ni t u, cc allele him tn ti trong qun th hu
ht cc th d hp.
4.2. u th d hp t
u th d hp t hay siu tri (overdominance) l trng hp chn lc
u i ng h cc th d hp nhiu hn c hai dng ng hp t. Khi
chn lc khng loi thi allele no. mi th h, cc th d hp s sinh
sn mnh cho nhiu con chu hn cc th ng hp v chn lc s gi li
c hai allele cho n khi qun th to c trng thi cn bng, vi cc tn
s allele khng thay i.
Mt v d ni bt v hin tng siu tri trong cc qun th ngi l
bnh thiu mu hng cu hnh lim, mt bnh ph bin chu Phi v chu
. Bnh ny c lin quan n mt dng st rt do k sinh trng ph bin
gy ra l Plasmodium falciparum. Allele HbS gy cht trc tui trng
thnh nhng ngi ng hp t HbSHbS. Tn s allele ny c th cao
hn 10% cc vng c st rt ni trn, bi v cc th d hp HbAHbS
khng c s nhim st rt, trong khi cc th ng hp HbAHbA th
khng c kh nng .
Tn s allele ny trong cc qun th ngi l q =
Cu hi v Bi tp
1. (a) nh ngha cc khi nim sau: di truyn hc qun th, qun th,
vn gene, tn s allele v tn s kiu gene. (b) c trng di truyn ca cc
qun th giao phi v ni phi l g?
2. Ti sao ni khi nim cn bn v cng c thit yu ca di truyn hc
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MN
Tng
Th dn c
22
216
492
730
B lc da Navaho
305
52
4
361
Ngi M gc Capca 1787
3039
1303
6129
6. Hy tnh tn s allele trong cc trng hp sau:
a) Cc th ng hp ln nhiu gp hai ln cc th d hp.
b) Cc th ng hp ln nhiu gp su ln cc th d hp.
7. Mu sc v c sn chu u c kim sot bi ba allele mt locus
n: CB (nu), CP (hng) v CY (vng). Allele mu nu l tri so vi hng
v vng; mu hng tri so vi vng; mu vng l ln hon ton. Trong mt
qun th c sn cc mu sc c phn b nh sau: 472 nu, 462 hng, 66
vng. Nu nh qun th ny dng cn bng, tn s cc allele s ra sao?
8. Chng m mu do mt allele ln m lin kt trn X gy ra. C mi
ngi c mt ngi nam mc chng m mu. Hi: (a) T l n gii
l bao nhiu? (b) Nu mt na s tr sinh ra mi gii tnh b m mu, th
t l cc cuc hn nhn gy ra hu qu l bao nhiu? (c) Nu nh tt c
tr sinh ra u bnh thng, th t l cc cuc hn nhn l nh th no?
9. Chng minh rng khi mt qun th tin ti trng thi cn bng i
vi mt gene lin kt gii tnh, th: (a) S dao ng v tn s allele gia
hai gii thu hp dn sau mi th h theo quy lut sau: (pc p) = (pc
p) , trong pc v p l cc tn s gene tng ng ca hai gii ci v
c i b m, cn pc v p l cc tn s tng ng i con ca n.
(b) Tn s gene ca c qun th ( p ) l khng i qua cc th h v bng
pc + p.
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