The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies.

中文翻译：

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人类基因组中常见的缺失多态性。

人类基因组中常见缺失变体的位置和特性在很大程度上是未知的。我们描述了一种使用密集的SNP基因型数据发现缺失的系统方法，并将其应用到国际HapMap联盟的数据中，以表征和分类在整个人类基因组中分离的缺失变体。我们确定了541个删除变体（94％为新颖的），大小从1 kb到745 kb不等。在多个无亲缘关系的个体中观察到了278个这些变体，其中120个处于纯合状态。发现十个表达基因的编码外显子通常被删除，包括在性类固醇代谢，嗅觉和药物反应中起作用的多个基因。这些常见的删除多态性通常代表与附近SNP连锁不平衡的祖先突变，