Haplotype diversity surrounding the insulin
minisatellite
All haplotypes from each population are presented below.
Haplotypes were inferred using the PHASE algorithm (Stephens
et al., 2001).
Haplotypes which were inferred with <95% confidence
at every polymorphism are indicated in red.
Ancestral haplotypes were inferred from sequence analysis
of a chimp, gorilla and orang. ? denotes missing data, while - denotes deletion
of the region homologous to the human polymorphism. Alleles which differed between
the three species are highighted in blue. In these cases, the allele shared
between the most species was considered ancestral.
A region between SNPs INS-11 and INS-40 was selected
for phylogenetic analysis using the median joining analysis. Markers outside
of this region showed substantial evidence of re-shuffling by historical recombination.
To root the resulting network, markers outside the INS-11
to INS-40 region were excluded, as were any markers for which ancestral state
was uncertain (shown in blue).
Upon removal of singleton haplotypes, the following
haplotypes were identical to the ancestral state at every position:
Ha/b
Va/b
Sa
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SNP I I I I I I I I I I I I I I I I I I V I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I I
N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N N
S S S S S S S S S S S S S S S S S S T S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S S
| | | | | | | | | | | | | | | | | | R | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
1 2 3 4 5 6 7 9 1 1 1 1 1 1 1 1 2 2 2 2 6 2 2 7 7 2 3 3 3 3 3 3 3 3 4 4 4 4 4 4 7 5 5 5 5 7 5 7 5 6 6 6 6 6 6 6
0 1 2 4 6 7 8 9 0 1 4 5 9 6 7 2 0 8 1 2 4 5 6 7 8 9 0 1 2 3 5 9 1 1 2 3 4 3 6 4 7 0 3 4 5 6 7 8
Base C A C C C A C A C C C C A A A C C A C A + A A C A C C C C C A C C A C G A C C A + C A A C C A A A A C C C C A A
change / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / / /
T T G T T T G G C T T T T G T G T T C G G - G T T G T T T G T G T T C T T G G T T - G G C T T G G G G T G T T G G
o I
t K v Location | | | | | | | | | | | | | | | | | | | | | | | | + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
a a o 4 4 4 3 3 3 3 2 2 2 1 1 1 1 1 1 1 1 2 2 1 1 2 9 3 1 4 5 8 8 9 9 1 1 1 1 1 1 2 2 2 2 2 2 3 3 3 3 3 3 3 3 3 3 3 3
l z r Z 2 0 0 6 4 0 0 7 2 2 9 8 7 4 3 3 2 4 9 8 9 5 3 5 9 3 7 0 6 3 5 1 1 3 4 4 9 0 3 3 8 8 9 0 0 1 2 2 3 5 5 5 5 5 6
a y I 1 6 4 0 4 7 1 3 5 2 8 5 4 6 3 1 6 8 3 6 2 8 7 1 3 5 2 4 7 2 4 5 0 2 7 0 3 3 4 8 9 0 7 3 0 5 0 2 6 6 7 8 1
N k m Haplotype 7 9 1 2 0 1 2 3 0 1 6 1 3 7 3 9 5 7 0 5 4 8 3 3 1 6 4 3 2 6 8 1 1 6 5 6 2 5 9 0 4
u h J C b K
b s a o a e Chimpanzee T G C T C A G C C C C T G T A C C A C G - G T C G C C T G C G C - - C G G G C A + G G C T C G G A G C G T C A G
m t p a b n Gorilla T G C T C G G C C C C C G T A C C A C G - G T C G C C T G C G C C A C G G G C A + G G C T T G G A G C G T C G ?
e U a a s w y Orangutan T G C T C G G - ? ? C T G T A C C A C G - G T C G C C T G C G C G G C G G G C A + C G C T T G G A G C G C T G ?
r K n n t e a Ancestral T G C T C G G C C C C T G T A C C A C G - G T C G C C T G C G C C A C G G G C A + G G C T T G G A G C G T C G G
131 41 17 46 11 14 2 ICa T G C T C G G A C C C C G T A C C A IC C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
8 4 1 2 1 ICb C G C T C G G A C C C C G T A C C A IC C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
2 2 ICc C G C T C G G A C C C C G T A C C A IC C G - G A T G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
1 1 ICd T G C T C G G A C C C C G T A C C A IC C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C A G
1 1 ICe T G C T C A G A C T C C G T A C C A IC C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
1 1 ICf C G C T C G G A C C C C G T A C C A IC C G - G A C G C C T C T G C C A C G G G C T - G G A T C G G A G C G T C G G
1 1 ICg T G C T C G G A C C C C G T A C C A IC C G - G A C G C C T C C G C C C C G G G C T - G G C T C G G A G C G T C G G
88 10 14 47 9 7 1 ID+a C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C G G
19 18 1 ID+b C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G A A G C G T C G G
6 2 1 3 ID+c C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
1 1 ID+d C G C T C G G C C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C G G
68 32 12 19 2 2 1 ID-a C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C A G
31 23 2 2 4 ID-b T G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C A G
9 9 ID-c C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T T G G A G C G T C A G
5 4 1 ID-d C G C T C G G C C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + C G C T C G G A G C G T C A G
1 1 ID-f C G C T C G G A C C C C G T A C C A ID C G - G A C G C C T C C G C C C C G G G C A + G G C C C G G A G C G T C A G
2 2 IEa T G C T C G G A C C C C A T A C C A IE C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
1 1 IEb T G C T C G C C C C C C G T A C C A IE C G - G A C G C C T C C G C C C C G G G C T - G G A T C G G A G C G T C G G
51 45 4 2 IIIAa T G C T C G G C C T C C G T A C C A IIIA C G - G T C G C C T G C G C T A T T A G C A + C G C T C G G A G C G T C G G
3 3 IIIAb C G C T C G G A C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A T T A G C A + C G C T C G G A G C G T C G G
1 1 IIIAc T G C T C G G C C T C C G T A C C A IIIA C G - G T C G C C T G C G C T A T G A G C A + C G C T C G G A G C G T C G G
1 1 IIIAd T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A T T A G C A + C G C T C G G A G C G T C G G
6 4 1 1 IIIAe T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A C T A G C A + C G C T C G G A G C G T C G A
5 2 1 2 IIIAf T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A C T A G C A + C G C T C G G A G C G T C G G
3 2 1 IIIAg T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A C G G G C A + C G C T C G G A G C G T C G G
1 1 IIIAh T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
1 1 IIIAj T G C C C G G C T C C C G T A C C A IIIA C G - G T C G C C T G C G C T A C T A G C A + C G C T C G G A G C G T C G G
1 1 IIIAk T G C T C G G C C C C C G T A C C A IIIA C G - G T C G C C T G C G C T A C G G G C A + C G C T C G G A G T G C T G G
19 9 2 1 4 2 1 IIIBa C G C T C G G C C C C C G T A C C A IIIB C G - G T C G C C T C T G C C A C G G G C T - G A A T C G G A G C G T C G G
2 1 1 IIIBb C G C T C G G C C C C C G T A C C A IIIB C G - G T C G C C T C T G C C A C G G G C A + C G C T C G G A G C G T C G G
2 1 1 IIIBc T G C T C G G C C C C C G T A C C A IIIB C G - G T C G C C T C T G C C A C G G G C T - G A A T C G G A G C G T C G G
1 1 IIIBd C G C T C G G C C C C C G A A C C A IIIB C G - G T C G C C T C T G C C A C G G G C T - G G A T C G G A G C G T C G G
1 1 IIIBe C G C T C G G C C C C C G T A C C A IIIB C G - G T C G C C T C T G C C A C G G G C T - G G A T C G G A G C G T C G G
1 1 Fa T G C T C G G C C C C C G T A T C A F C G - G T C G T C C G C G C C A C G G G T A + G G C T C G G A G C G T C G G
3 2 1 Ga T G C T C A G C C C C C G T G C C A G C G - G T C G C C T G C G C C A C G G G T A + C G C T C G G A G C G T C G G
3 2 1 Ha T G C T C G G C C C C T G T A C C A H C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
2 2 Hb T G C T C G G C C C C T G T A C C A H C G - G T C G C C T G C G C C A C G G G C A + G G C T C G G A G C G T C G G
30 14 11 5 Ja T G C T T G C C C C C C G T A C C A J G G + G T C G C C T G C G C C A C G G G C T - G A A T C G G A G C G T C G G
2 2 Jb T G C T C G G C T C C C G T A C C C J G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
1 1 Jc T G C T T G C C C C C C G T A C C A J C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
1 1 Je T G C T C G C C C C C C G T A C C A J G G + G T C G C C T G C G C C A C G G G C T - G A A T C G G A G C G T C G G
37 18 12 7 Ka T G C C C G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
27 11 9 7 Kb T G C T C G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
2 2 Kc T G T T C G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
2 1 1 Kd T G C T T G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
2 1 1 Ke T G C C C G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G C C A + G G C C C G G A G T G C C G G
1 1 Kf T G C T C G G C T C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + G G C C C G G A G T G C T G G
1 1 Kg T G C T T G C C C C C C G T A C C A K G G + G T C G C C T G C G C C A C G G G C T - G A A T C G G A G C G T C G G
1 1 Kh T G C C C G G C C C C C G T A C C C K G G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
22 13 7 2 La T G C T C G C C C C C C G T A C C C L G G - G T C G T C T G C G C C A C G G G C A + G G C C C G G A G T G C T G G
1 1 Lb T G C T C G G A C C C C G T A C C A L G G - G T C G T C T G C G C C A C G G G C A + G G C C C G G A G T G C T G G
9 5 1 3 Ma C G C T C G C C C C C C G T A C C C M C G + G T C G T C T G C G T C A C G G G C A + C G C T C G G A G C G T C G G
11 4 7 Na T G C T C G G C C C C C G T G C T A N C G - G T C A C C T G C G C C A C G G C C A + G G C C C G G A G T G C C G G
1 1 Nb T G C T C G G C C C C C G T G C T A N C G - G T C A C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
4 4 Oa C G C T C G G C C C C C G T A C C A O C G - G T C G T C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
4 2 2 Pa T G C T C G G C C C C C G T A C C C P C G - G T C G C C T G C G C C A C G G G C A + G G C T C G G A G C G T C G G
2 2 Pb C G C T C G G C C C C C G T A C C C P C G - G T C G C C T G C G C C A C G G G C A + G G C T C G G A G C G T C G G
18 2 8 8 Qa T G C T C G G C C C C C G T A C C A Q C G - A T C G T C T G C G C C A C G G G C A + C G C T C G G G G C C T C G G
1 1 Qb C G C T C G G C C C C C G T A C C A Q C G - A T C G T C T G C G C C A C G G G C A + C G C T C G G G G C C T C G G
10 6 1 3 Sa T G C T C G G C C C C C G T A C C A S C G - G T C G C C T G C G C C A C T A G C A + C G C T C G G A G C G T C G G
1 1 Sb T G C T C G G C C C C C G T A C C A S C G - G T C G C C T G C G C T A C T A G C A + C G C T C G G A G C G T C G G
5 4 1 Ta T G C T C G G C C C T C G T A C C C T G G + G T C G C C T G C G C C A C G G G C A + G G C C C A G A A T G C T G G
3 1 2 Tb T G C T C G G C C C T C G T A C C C T G G + G T C G C C T G C G C C A C G G G C A + G G C C C G G A A T G C T G G
2 2 Ua T G C T C G C C C C C C G T A C C A U C A - G T C G C C T G C G C C A C G G G C A + G G C T C G G A G C G T C G G
4 1 3 Va C G C T C G G C C C C C G T A C C A V C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
3 2 1 Vb T G C T C G G C T C C C G T A C C A V C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
1 1 Vc T G C T C G G C C C C C G T A C C A V C G - G T C G C C T G C G C C A C G G G C A + C G C T C G G A G C G T C G G
34 12 16 6 Wa T G C T C G C C C C C C G T A C C C W G G + G T C G T C T G C G C C A C G G G C A + G G C C C G G A G T G C T G G
10 7 2 1 Wb T G C T C G C C C C C C G T A C C C W G G + G T C G T C T G C G C C A C G G G C A + C G C C C G G A G T G C T G G
1 1 Wc T G C T C G G C C C C C G T A C C C W G G + G T C G T C T G C G C C A C G G G C A + C G C C C G G A G T G C T G G
1 1 Wd T G C T C G C C C C C C G T A C C C W G G + G T C G T C T G C G C C A C G G G C T - G A A T C G G A G C G T C G G
9 3 5 1 Xa T G T T C G G C C C C C G T A C C A X C G - G T C G C C T C T G C C A C G G G C T - G G A T C G G A G C G T C G G
1 1 Xb T G C T C G G C C C C C G T A C C A X C G - G T C G C C T C T G C C A C G G G C T - C G A T C G G A G C G T C G G
1 1 Xc T G T T C G G C C C C C G T A C C A X C G - G T C G C C T C T G C C A C G G G C A + C G C T C G G A G C G T C G G
4 4 Ya C G C T C G G C C C C C G A A C C A Y C G - G T C G C T T C T A C C A C G G G C T - G G A T C G G A G C G T C G G
2 1 1 Yb C G C T C G G C C C C C G A A C C A Y C G - G T C G C C T C T G C C A C G G G C T - G G A T C G G A G C G T C G G
1 1 Za C A C T C G C C C C C C G T A C C A Z G G + G T C G T C T G C G C C A C G G G C A + G G C C C G G A G T G C C G G
756 204 56 118 156 138 84 Total
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These pages provide supplementary information for the following publications:
Global haplotype diversity in the human insulin gene region. Stead, J.D.H., Hurles, M.E. and Jeffreys, A.J. Genome Res. 13, 2101-11 (2003)
Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non-Africans. Stead, J.D.H. and Jeffreys, A.J. Am. J. Hum. Genet. 71, 1273-84 (2002)
Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Stead, J.D.H., Buard, J., Todd, J.A. and Jeffreys, A.J. Hum. Mol. Genet., 9, 2929-2935 (2000).
Allele diversity and germline mutation at the insulin minisatellite. Stead, J.D.H. and Jeffreys, A.J. Hum. Mol. Genet., 9, 713-723 (2000).
If you refer to these data, please cite the relevant publication.
Last updated: 8 September, 2005
Celia A. May
The views expressed in this document are those of the document owner, John D.H. Stead.
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