A comprehensive analysis of common copy-number variations in the human genome
A comprehensive analysis of common copy-number variations in the human genome
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DOI：
10.1086/510560
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发表时间：
2007-01-01
影响因子：
9.8
通讯作者：
Lam, Wan L.
中科院分区：
文献类型：
--
作者：
Wong, Kendy K.;deLeeuw, Ronald J.;Lam, Wan L.
人类基因组中的片段拷贝数变异（CNVs）与发育障碍和疾病易感性有关。更重要的是，CNVs可能代表了我们表型多样性的主要遗传组成部分。在这项研究中，使用全基因组阵列比较基因组杂交分析，我们确定了3，654个常染色体节段性CNV，其中800个以至少3%的频率出现。在这些常见的CNV中，77%是新的。在分析的95个个体中，两个最多样化的基因组在大小上至少相差9 Mb，或者在内容上至少相差266个位点。800个多态性区域中约有68%与基因重叠，这可能反映了人类在感官（嗅觉，听觉，味觉和视觉），恒河猴表型，代谢和疾病易感性方面的多样性。有趣的是，14个多态性区域包含21个已知的人类microRNA，这提高了microRNA对人类表型多样性的贡献的可能性。这种对人类基因组中CNV的深入调查为涉及人类遗传学的研究提供了有价值的基线。
Segmental copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs may represent a major genetic component of our phenotypic diversity. In this study, using a whole-genome array comparative genomic hybridization assay, we identified 3,654 autosomal segmental CNVs, 800 of which appeared at a frequency of at least 3%. Of these frequent CNVs, 77% are novel. In the 95 individuals analyzed, the two most diverse genomes differed by at least 9 Mb in size or varied by at least 266 loci in content. Approximately 68% of the 800 polymorphic regions overlap with genes, which may reflect human diversity in senses (smell, hearing, taste, and sight), rhesus phenotype, metabolism, and disease susceptibility. Intriguingly, 14 polymorphic regions harbor 21 of the known human microRNAs, raising the possibility of the contribution of microRNAs to phenotypic diversity in humans. This in-depth survey of CNVs across the human genome provides a valuable baseline for studies involving human genetics.