Title: 1)????????(variations)?
1???????
?9? ??????????
?? ?
???????????
2?????????
1)????????(variations)? ??????
2)?????????????
3)??????????????? ???
4)???????????????? ??????????????? ????
3?????
???????????(???)? ????????????????
???? ? ??? (genotype) (phenotype)
DNA ? ?????
4?????
??????????????????????????????????
????????????????????????????????
?????????????????????3???????????????????
5???????
6???????
????????????????????????????????????
7??????????
???DNA?????????
??????????????????????????????????
????????????????????????????
8?????
??????(???population)??????????????????????
?????????????????
9?????
??????????????????????????????????????(allele)????
?????
??????????????????????????????????????????????????
??(gene pool)????
10????????????????????????????????????????????????
??????????????????????(gene frequency)???????
????????????????????
11????-?????????
??????????????????????????????????????????????????
??????????????????????????????????????????????????
???????????
1908????2????????
12?????
1)?????????????
2)???????????????? ??????????????????
3)???????????????? ??????????????
4)???????????????? ????????????
5)???????????????? ?????
13????
???????????????????????????????
A ? a
?????
AA?Aa?aa
????
14????
????????????????????????
AAAaaa0.3333
?????A?a????
Aa0.5
???????????F1??
15??????9??
AA x AA AA x Aa AA x aa Aa x AA Aa x Aa Aa
x aa aa x AA aa x Aa aa x aa
16F1????
AAx AA AAx Aa AAx aa Aa x AA Aa x Aa Aa x aa aa
x AA aa x Aa aa x aa
AAxAA
4 x AA
?????
A A
A
A
AA AA
AA AA
?????
17F1????
AAx AA AAx Aa AAx aa Aa x AA Aa x Aa Aa x aa aa
x AA aa x Aa aa x aa
4 x AA
2 x AA 2 x AA
4 x Aa
2 x AA 2 x Aa
1 x AA 2 x Aa 1 x aa
2 x Aa 2 x aa
4 x Aa
2 x Aa 2 x aa
4 x aa
18F1????
??
9 x AA
18 x Aa
9 x aa
19F1????
???????
AAAaaa9189121
??????
(AAAa)aa31
??????A9x29? a99x2????27????0.5
20F2????
AAx AA Aa x AA AAx Aa Aa x Aa AAx Aa
Aa x Aa AAx aa Aa x aa Aa x AA
aa x AA Aa x Aa aa x Aa Aa x Aa
aa x Aa Aa x aa aa x aa
?16????????
21F2????
AA Aa aa
AAx AA AAx Aa AAx Aa AAx aa Aa x AA Aa x Aa Aa x
Aa Aa x aa Aa x AA Aa x Aa Aa x Aa Aa x aa aa x
AA aa x Aa aa x Aa aa x aa
- 4
- 2 2
- 2 2
- 4
- 2 2
- 1 2 1
- 2 1
- 2 2
- 2 2
- 1 2 1
- 1 2 1
- 2 2
- 4
- 2 2
- 2 2
- 4
22F2????
???????
AAAaaa163216121
??????
(AAAa)aa31
??????A16x216? a1616x2????48????0.5
23????-?????????
??????????????????????????????????????????????????
????????????????????
???????????????????????????????????????????
24????-?????????
0.5 0.5
0.5
0.5
0.25 0.25
0.25 0.25
(AA2Aa)aa0.750.25 ????
25??????
?????????????????????????A????p?a????q????
???pq1
26??????
(A) p (a) q
p
q
p2 pq
pq q2
(pq)2p22pqq2
(pAqa)2p2AA2pqAaq2aa
27?????
?????????????????????????????????????????????????
?????A(p)?0.60?a(q)?0.4???????
AA???p2 (0.60)2 0.36 aa???q2 (0.40)2
0.16 Aa???2pq2x(0.60)x(0.40)0.48
28?????
?????????????????500??????????????????????????????
??????????
AA????0.36x500180 Aa???? 0.48x500240 aa????
0.16x500 80
29?????
???????????????????????????
????????????????????????????????
??????????????????????????????????????????????????
?????????????????
30??????????
ABO????
????????
31ABO????
--Gal-GlcNAc-Gal(ABO???????)
????????(??H)
--Gal-GlcNAc-Gal(H(O)???)
Fuc
??????????? ????(??A)
??????? ????(??B)
Gal-GlcNAc-Gal-GalNAc(A???)
Fuc
Gal-GlcNAc-Gal-Gal(B???)
Fuc
32ABO????
??3?????????????????
33ABO????
A?B????????????A?B?O??????????
ABO??????9??????? (9q34)?A????A????B????B?????????
??354?????
O?????A????88???????G ?????????????????117????????
??????
34?????
(pAqBrO)2 p2AA2prAO
q2BB2qrBO 2pqAB r2OO
???A
???B
???AB
???O
35???
?????????????????A??1,725,950??B??988,996??AB??444
,979??O??1,305,924? (??4,465,349?)
A? 0.386521(p22pr) B? 0.221482(q22qr) AB?0.
099540(2pq) O? 0.292457(r2)
36???
????r??????????
r2 0.292457?????
r SQRT(0.292457) 0.540793
37???
p?q??????????
q 1-(pr)1-SQRT((pr)2) 1-SQRT(p22prr2)
1-SQRT(0.3865210.292457) 0.175999
p 1-(qr)1-SQRT((qr)2) 1-SQRT(q22qrr2)
1-SQRT(0.2214820.292457) 0.283104
38???
???????????????????ABO????????????A (IA)?B(IB)?O(i
)????????? 0.283?0.176?0.541????
??????????????????????????
39?????
????????????????????????????????
??????????????????????????????????????????????????
???????????
??????????????????????????
40????
??????????????????????5???????????????????????
??????????????????????
????????????????????????????????????????????????
41????
??????????????????????????????????????????????????
?????
??????????????????
???????????????????
42???
1)?????????????
????(mutation)
2)???????????????? ??????????????????
????(gene flow)
3)???????????????? ??????????????
?????(genetic drift)
4)???????????????? ????????????
????(natural selection)
5)???????????????? ?????
???????(non-random mating)
43???
??????????????????????5???????????????????????????
?????????????????????????
44???????????
??????????????
?????????
???????????????????????
?????????????????
45??????????
???DNA?????????
??????????????????????????????????
????????????????????????????