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

被引：788

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

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