人类基因组单倍型图谱。
A haplotype map of the human genome.
出版信息
Nature. 2005 Oct 27;437(7063):1299-320. doi: 10.1038/nature04226.
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.
遗传变异在人类疾病中起着关键作用，但目前在很大程度上仍未得到充分认识。在此我们报告了一个人类基因组常见变异的公共数据库：从四个群体的269个DNA样本中获得了超过一百万个单核苷酸多态性（SNP）的准确完整基因型，其中包括十个500千碱基区域，在这些区域中基本上提取了所有关于常见DNA变异的信息。这些数据记录了重组热点的普遍性、连锁不平衡的块状结构和低单倍型多样性，导致SNP与其许多相邻位点之间存在显著相关性。我们展示了HapMap资源如何指导遗传关联研究的设计和分析，阐明结构变异和重组，并识别在人类进化过程中可能经历了自然选择的基因座。
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