Segmental copy-number variation observed in Japanese by array-CGH
Segmental copy-number variation observed in Japanese by array-CGH
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DOI：
10.1111/j.1469-1809.2007.00415.x
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发表时间：
2008-03-01
影响因子：
1.9
通讯作者：
Katayama, H.
中科院分区：
文献类型：
--
作者：
Takahashi, N.;Tsuyama, N.;Katayama, H.
片段拷贝数变异（CNVs）可能导致人类的遗传变异。在这项研究中，我们使用基于微阵列（2，238个Bac-clones）的比较基因组杂交（array-CGH）检测了80个无关的日本个体。我们在基因组中的30个不同区域共发现了251个CNV;其中，14个（称为“罕见”CNV）单独位于14个个体的不同基因组区域内，而其余16个CNV区域（称为“多态性”CNV）在两个或更多个个体中观察到。通过定量聚合酶链反应证实了罕见的CNVs，并且使用阵列CGH比以前的报告更精确地表征。观察到这些CNVs的独特特征：最突出的是大多数罕见的CNVs呈现在Bac-clones上，这些克隆不与片段性重复区域重叠。在该人群中观察到的多态性CNVs中约有90%先前已被鉴定，其中大多数多态性CNVs位于节段性重复区域。因此，罕见和多态的CNVs很可能是通过不同的遗传机制产生的。由于超过一半的罕见CNV是新的，因此不同人群也可能携带不同的CNV，如单核苷酸多态性（SNP）和插入缺失（indel）多态性。
Segmental copy-number variations (CNVs) may contribute to genetic variation in humans. In this study, we examined 80 unrelated Japanese individuals using a microarray (2,238 Bac-clones) based comparative genomic hybridization (array-CGH) assay. We found a total of 251 CNVs at 30 different regions in the genome; of these, 14 (termed 'rare' CNVs) were found individually located within distinct genomic regions of 14 individuals, while the remaining 16 CNV regions (termed 'polymorphic' CNVs) were observed in two or more individuals. The rare CNVs were confirmed by quantitative polymerase chain reactions, and characterized more precisely than in previous reports using array CGH. Distinctive features of these CNVs were observed: most prominent was that the majority of the rare CNVs presented on Bac-clones that did not overlap with regions of segmental duplication. About 90% of the polymorphic CNVs observed in this population had been previously identified, with the majority of those polymorphic CNVs located in regions of segmental duplication. It is likely, therefore, that rare and polymorphic CNVs arise through different genetic mechanisms. Since more than half of the rare CNVs are novel, it is also likely that different human populations bear different CNVs, as is the case for single-nucleotide-polymorphisms (SNPs) and insertion-deletion (indel) polymorphisms.