High-resolution haplotype structure in the human genome
High-resolution haplotype structure in the human genome
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DOI：
10.1038/ng1001-229
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发表时间：
2001-10-01
期刊：
影响因子：
30.8
通讯作者：
Lander, ES
中科院分区：
文献类型：
--
作者：
Daly, MJ;Rioux, JD;Lander, ES
连锁不平衡（LD）分析传统上是基于单个遗传标记，往往会产生一个不稳定的，非单调的图片，因为检测等位基因关联的能力取决于每个标记的特定属性，如频率和人口的历史。理想情况下，LD分析应该直接基于人类基因组的潜在单倍型结构，但这种结构仍然知之甚少。在这里，我们报告了一个高分辨率分析的单倍型结构跨越500个酶。在染色体5q31上使用103个单核苷酸多态性（SNP）在欧洲来源的人群中。结果显示了离散的单倍型块（数十至数百个重复酶）的图片，每个块都具有有限的多样性，并被重组的明显位点打断。此外，我们开发了一个分析模型LID映射的基础上，这样的单倍型块。如果我们观察到的结构是普遍的（已发表的数据表明它可能是），它为创建人类基因组单倍型图提供了一个连贯的框架。
Linkage disequilibrium (LD) analysis is traditionally based on individual genetic markers and often yields an erratic, nonmonotonic picture, because the power to detect allelic associations depends on specific properties of each marker, such as frequency and population history. Ideally, LD analysis should be based directly on the underlying haplotype structure of the human genome, but this structure has remained poorly understood. Here we report a high-resolution analysis of the haplotype structure across 500 kilobases. on chromosome 5q31 using 103 single-nucleotide polymorphisms (SNPs) in a European-derived population. The results show a picture of discrete haplotype blocks (of tens to hundreds of kilobases), each with limited diversity punctuated by apparent sites of recombination. In addition, we develop an analytical model for LID mapping based on such haplotype blocks. If our observed structure is general (and published data suggest that it may be), it offers a coherent framework for creating a haplotype map of the human genome.