????? ???? (2) ?????

1
?????????(2)???????????????
2
????????
10
102
103
104
105
106
107
108
109
1010
1
Sub-microscopic variants
Microscopic variants
Structural variants
SNP
??
?????
?????
CNV
?????
?????(??)
?????(??)
3
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4
Status IV 4?????? Dlt1,r2lt1
Recombination
Drift
Nh Number of haplotype alleles Ns Number of
polymorphic sites
Monophyletic mutation
Status III 3?????? D1,r2lt1
Birth of SNP pairs
Status II-B 2?????? D1,r21
Status II-A SNP1? Nh2,Ns1
Death of SNP pairs
Status I SNP?? Nh1,Ns0
5
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6
SNP??

• Single Nucleotide Polymorphism(1????)
• ???????????????
• ????????100-1000????1??
• ?????
• ????????
• ?????????????

7
?????????DNA???????????
? ?????
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0
? ?????
2????????????1000???1????? ???????30????????300???
???
8
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0
????????????????
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0
9
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 1
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0
0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0
0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0
???????????????????????100??????3000???
0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0
0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 0 0 1 0 0 0 0 0 0
1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 1 1 0 1 0 0 0 1 0 0 0 0 0 0
0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0
0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 0 0 0 0 0
1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 0 0 0 0 0
0 0 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 1 1 0 0 0 1 0 0 0 0 1 1
1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 1 0 1 0 0 0 1 0 0 0 0 0 1
0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 1 0 0 1 1 0 0 0 0 0 0 0 0 1 1
1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 1 0 0 0 0 0 0 0 0 1 0
0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0
10
(No Transcript)
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????

• ??????????????????SNP????????????????
• SNPA???????pA, pa (pApa1)
• SNPB???????qB, qb (qBqb1)
• ?????? AB??????pA x pB
• ?????? Ab?????? pA x pb
• ?????? aB?????? pa x pB
• ?????? ab?????? pa x pb

13
???????????????????????

• ?????????????????????????

???????????(0???1???) D r2
14
Haplotype AB Haplotype Ab Haplotype aB Haplotype ab
???? P(A)xP(B) P(A)x(1-P(B)) (1-P(A))xP(B) (1-P(A)x(1-P(B))
Absolute disequilibrium P(A) 0 0 1-P(A)
Complete disequilibrium P(A) 0 P(B)-P(A) 1-P(B)
15
D ?2
???? 0 0
Absolute disequilibrium 1 1
Complete disequilibrium 1 0????1??
16
Status IV 4?????? Dlt1,r2lt1
Recombination
Drift
Nh Number of haplotype alleles Ns Number of
polymorphic sites
Monophyletic mutation
Status III 3?????? D1,r2lt1
Birth of SNP pairs
??????????????????? ??????????????????????
Status II-B 2?????? D1,r21
Status II-A SNP1? Nh2,Ns1
Death of SNP pairs
Status I SNP?? Nh1,Ns0
17
LD ?????????????
??
??
18
??SNP??????LD??????
19
??
??
????????????????????? ????????????????????????? ??
????????????????
20
?????????????

• SNP????????????????LD???SNP???????????????????

21
LD????????
22
LD????????
SNP
23
??????????

• ??????????????????
• ???????????

24
???SNP?????????
D???
25
2SNP9???????????????LD????????????????

• ?????.xls
• ??????
• ??SNP???
• ?????????
• ??????????