Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
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DOI：
10.1126/science.280.5366.1077
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发表时间：
1998-05-15
期刊：
影响因子：
56.9
通讯作者：
Lander, ES
中科院分区：
文献类型：
--
作者：
Wang, DG;Fan, JB;Lander, ES
单核苷酸多态性（SNP）是人类基因组中最常见的变异类型，它们为各种医学遗传研究提供了强大的工具。在对SNP的大规模调查中，通过基于凝胶的测序和高密度变异检测DNA芯片的组合检查了2.3个人类基因组DNA。总共确定了3241个候选SNP。构建了一个遗传图，显示了这些SNP的2227位置。开发了原型基因分型芯片，允许同时基因分型为500 SNP。结果提供了人类多样性在核苷酸水平上的表征，并证明了人类SNP的大规模鉴定的可行性。
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.