Wong Kendy K, deLeeuw Ronald J, Dosanjh Nirpjit S, Kimm Lindsey R, Cheng Ze, Horsman Douglas E, MacAulay Calum, Ng Raymond T, Brown Carolyn J, Eichler Evan E, Lam Wan L
Department of Cancer Genetics and Developmental Biology, University of British Columbia, Vancouver, BC, Canada.
Am J Hum Genet. 2007 Jan;80(1):91-104. doi: 10.1086/510560. Epub 2006 Dec 5.
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.
人类基因组中的节段性拷贝数变异（CNV）与发育障碍和疾病易感性相关。更重要的是，CNV可能是我们表型多样性的主要遗传组成部分。在本研究中，我们使用全基因组阵列比较基因组杂交分析，鉴定出3654个常染色体节段性CNV，其中800个出现频率至少为3%。在这些常见的CNV中，77%是新发现的。在分析的95个个体中，两个差异最大的基因组在大小上至少相差9 Mb，或在内容上至少有266个位点不同。800个多态性区域中约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、新陈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个人类已知的微小RNA，这增加了微小RNA对人类表型多样性有贡献的可能性。这项对人类基因组中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。
