Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

被引：1555
|
作者：
Wang, DG
Fan, JB
Siao, CJ
Berno, A
Young, P
Sapolsky, R
Ghandour, G
Perkins, N
Winchester, E
Spencer, J
Kruglyak, L
Stein, L
Hsie, L
Topaloglou, T
Hubbell, E
Robinson, E
Mittmann, M
Morris, MS
Shen, NP
Kilburn, D
Rioux, J
Nusbaum, C
Rozen, S
Hudson, TJ
Lipshutz, R
Chee, M
Lander, ES
机构：
[1] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
[2] MIT, Dept Biol, Cambridge, MA 02139 USA
[3] Affymetrix Inc, Santa Clara, CA 95051 USA
来源：
SCIENCE | 1998年 / 280卷 / 5366期
关键词：
D O I：
10.1126/science.280.5366.1077
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：
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.
引用
收藏
页码：1077 / 1082
页数：6
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