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Global variation in copy number in the human genome

机译:人类基因组中拷贝数的整体变化

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Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
机译:DNA序列的拷贝数变异(CNV)在功能上很重要,但尚未完全确定。通过研究来自欧洲,非洲或亚洲四个祖先的270个个体,我们构建了人类基因组的第一代CNV图(HapMap集合)。使用两种互补技术从这些个体的DNA中筛选CNV:单核苷酸多态性(SNP)基因分型阵列和基于克隆的比较基因组杂交。在这些人群中,共鉴定了1,447个拷贝数可变区(CNVR),可以覆盖重叠或相邻的得失,覆盖360兆碱基(占基因组的12%)。这些CNVR包含数百个基因,疾病位点,功能元件和节段重复。值得注意的是,CNVR在每个基因组中比SNP包含更多的核苷酸含量,从而强调了CNV在遗传多样性和进化中的重要性。获得的数据描绘了许多CNV的连锁不平衡模式,并揭示了种群之间拷贝数的显着变化。我们还证明了该资源在遗传疾病研究中的实用性。

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