An SNP map of human chromosome 22

被引：101

作者：

Mullikin, JC ^{[1
]}

Hunt, SE ^{[1
]}

Cole, CG ^{[1
]}

Mortimore, BJ ^{[1
]}

Rice, CM ^{[1
]}

Burton, J ^{[1
]}

Matthews, LH ^{[1
]}

Pavitt, R ^{[1
]}

Plumb, RW ^{[1
]}

Sims, SK ^{[1
]}

Ainscough, RMR ^{[1
]}

Attwood, J ^{[1
]}

Bailey, JM ^{[1
]}

Barlow, K ^{[1
]}

Bruskiewich, RMM ^{[1
]}

Butcher, PN ^{[1
]}

Carter, NP ^{[1
]}

Chen, Y ^{[1
]}

Clee, CM ^{[1
]}

Coggill, PC ^{[1
]}

Davies, J ^{[1
]}

Davies, RM ^{[1
]}

Dawson, E ^{[1
]}

Francis, MD ^{[1
]}

Joy, AA ^{[1
]}

Lamble, RG ^{[1
]}

Langford, CF ^{[1
]}

Macarthy, J ^{[1
]}

Mall, V ^{[1
]}

Moreland, A ^{[1
]}

Overton-Larty, EK ^{[1
]}

Ross, MT ^{[1
]}

Smith, LC ^{[1
]}

Steward, CA ^{[1
]}

Sulston, JE ^{[1
]}

Tinsley, EJ ^{[1
]}

Turney, KJ ^{[1
]}

Willey, DL ^{[1
]}

Wilson, GD ^{[1
]}

McMurray, AA ^{[1
]}

Dunham, I ^{[1
]}

Rogers, J ^{[1
]}

Bentley, DR ^{[1
]}

机构：

[1] Sanger Ctr, Cambridge CB10 1SA, England

来源：

NATURE | 2000年 / 407卷 / 6803期

关键词：

D O I：

10.1038/35035089

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：

The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic component of individuality, including complex characteristics such as disease susceptibility and drug response. Most sequence variants are single nucleotide polymorphisms (SNPs), where two alternate bases occur at one position (1-3). Comparison of any two genomes reveals around 1 SNP per kilobase(1,3). A sufficiently dense map of SNPs would allow the detection of sequence variants responsible for particular characteristics on the basis that they are associated with a specific SNP allele(4-6). Here we have evaluated large-scale sequencing approaches to obtaining SNPs, and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the SNPs are within 25 kilobases of a transcribed exon, and are valuable for association studies. We have scaled up the process, detecting over 65,000 SNPs in the genome as part of The SNP Consortium programme, which is on target to build a map of 1 SNP every 5 kilobases that is integrated with the human genome sequence and that is freely available in the public domain.

引用

页码：516 / 520

页数：6

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