Common deletion polymorphisms in the human genome
Common deletion polymorphisms in the human genome
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DOI：
10.1038/ng1696
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发表时间：
2006-01-01
期刊：
影响因子：
30.8
通讯作者：
Altshuler, DM
中科院分区：
文献类型：
--
作者：
McCarroll, SA;Hadnott, TN;Altshuler, DM
人类基因组中常见缺失变体的位置和性质在很大程度上是未知的。我们描述了一个系统的方法，使用密集的SNP基因型数据，发现缺失和其应用程序的数据从国际人类基因组单体型图联盟的特点和目录分离的缺失变异在人类基因组。我们确定了541个缺失变异（94%是新的），大小从1 kb到745 kb不等;其中278个变异在多个无关个体中观察到，120个处于纯合状态。发现10个表达基因的编码外显子普遍缺失，其中包括多个与性类固醇代谢、嗅觉和药物反应相关的基因。这些常见的缺失多态性通常代表与附近SNP连锁不平衡的祖先突变，这意味着它们与疾病的关联通常可以在基于SNP的全基因组关联研究过程中进行评估。
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.