Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21

被引：789

作者：

Patil, N ^{[1
]}

Berno, AJ ^{[1
]}

Hinds, DA ^{[1
]}

Barrett, WA ^{[1
]}

Doshi, JM ^{[1
]}

Hacker, CR ^{[1
]}

Kautzer, CR ^{[1
]}

Lee, DH ^{[1
]}

Marjoribanks, C ^{[1
]}

McDonough, DP ^{[1
]}

Nguyen, BTN ^{[1
]}

Norris, MC ^{[1
]}

Sheehan, JB ^{[1
]}

Shen, NP ^{[1
]}

Stern, D ^{[1
]}

Stokowski, RP ^{[1
]}

Thomas, DJ ^{[1
]}

Trulson, MO ^{[1
]}

Vyas, KR ^{[1
]}

Frazer, KA ^{[1
]}

Fodor, SPA ^{[1
]}

Cox, DR ^{[1
]}

机构：

[1] Perlegen Sci Inc, Mountain View, CA 94043 USA

来源：

SCIENCE | 2001年 / 294卷 / 5547期

关键词：

D O I：

10.1126/science.1065573

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.

引用

页码：1719 / 1723

页数：5

共 24 条

[1] Extent and distribution of linkage disequilibrium in three genomic regions [J].

Abecasis, GR ;

Noguchi, E ;

Heinzmann, A ;

Traherne, JA ;

Bhattacharyya, S ;

Leaves, NI ;

Anderson, GG ;

Zhang, YM ;

Lench, NJ ;

Carey, A ;

Cardon, LR ;

Moffatt, MF ;

Cookson, WOC .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :191-197

[2] The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes [J].

Altshuler, D ;

Hirschhorn, JN ;

Klannemark, M ;

Lindgren, CM ;

Vohl, MC ;

Nemesh, J ;

Lane, CR ;

Schaffner, SF ;

Bolk, S ;

Brewer, C ;

Tuomi, T ;

Gaudet, D ;

Hudson, TJ ;

Daly, M ;

Groop, L ;

Lander, ES .

NATURE GENETICS, 2000, 26 (01) :76-80

[3] Characterization of single-nucleotide polymorphisms in coding regions of human genes [J].

Cargill, M ;

Altshuler, D ;

Ireland, J ;

Sklar, P ;

Ardlie, K ;

Patil, N ;

Lane, CR ;

Lim, EP ;

Kalyanaraman, N ;

Nemesh, J ;

Ziaugra, L ;

Friedland, L ;

Rolfe, A ;

Warrington, J ;

Lipshutz, R ;

Daley, GQ ;

Lander, ES .

NATURE GENETICS, 1999, 22 (03) :231-238

[4] Accessing genetic information with high-density DNA arrays [J].

Chee, M ;

Yang, R ;

Hubbell, E ;

Berno, A ;

Huang, XC ;

Stern, D ;

Winkler, J ;

Lockhart, DJ ;

Morris, MS ;

Fodor, SPA .

SCIENCE, 1996, 274 (5287) :610-614

[5] Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase [J].

Clark, AG ;

Weiss, KM ;

Nickerson, DA ;

Taylor, SL ;

Buchanan, A ;

Stengård, J ;

Salomaa, V ;

Vartiainen, E ;

Perola, M ;

Boerwinkle, E ;

Sing, CF .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :595-612

[6] A DNA polymorphism discovery resource for research on human genetic variation [J].

Collins, FS ;

Brooks, LD ;

Chakravarti, A .

GENOME RESEARCH, 1998, 8 (12) :1229-1231

[7] Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies [J].

Douglas, JA ;

Boehnke, M ;

Gillanders, E ;

Trent, JA ;

Gruber, SB .

NATURE GENETICS, 2001, 28 (04) :361-364

[8]

EXCOFFIER L, 1995, MOL BIOL EVOL, V12, P921

[9]

FU YX, 1993, GENETICS, V133, P693

[10] Apolipoprotein E variation at the sequence haplotype level:: Implications for the origin and maintenance of a major human polymorphism [J].

Fullerton, SM ;

Clark, AG ;

Weiss, KM ;

Nickerson, DA ;

Taylor, SL ;

Stengård, JH ;

Salomaa, V ;

Vartiainen, E ;

Perola, M ;

Boerwinkle, E ;

Sing, CF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :881-900

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