Takahashi Norio, Satoh Yasunari, Sasaki Keiko, Shimoichi Yuko, Sugita Keiko, Katayama Hiroaki
Department of Genetics, Radiation Effects Research Foundation, 5-2 Hijiyama Park, Minami-ku, Hiroshima 732-0815, Japan.
J Biomed Biotechnol. 2011;2011:820472. doi: 10.1155/2011/820472. Epub 2010 Dec 19.
Segmental copy-number variations (CNVs) may contribute to genetic variation in humans. Reports of the existence and characteristics of CNVs in a large Japanese cohort are quite limited. We report the data from a large Japanese population. We conducted population screening for 213 unrelated Japanese individuals using comparative genomic hybridization based on a bacterial artificial chromosome microarray (BAC-aCGH). We summarize the data by focusing on highly polymorphic CNVs in ≥5.0% of the individual, since they may be informative for demonstrating the relationships between genotypes and their phenotypes. We found a total of 680 CNVs at 16 different BAC-regions in the genome. The majority of the polymorphic CNVs presented on BAC-clones that overlapped with regions of segmental duplication, and the majority of the polymorphic CNVs observed in this population had been previously reported in other publications. Some of the CNVs contained genes which might be related to phenotypic heterogeneity among individuals.
节段性拷贝数变异(CNV)可能对人类遗传变异有影响。关于日本大型队列中CNV的存在及其特征的报道相当有限。我们报告了来自日本大量人群的数据。我们使用基于细菌人工染色体微阵列(BAC-aCGH)的比较基因组杂交技术,对213名无亲缘关系的日本人进行了群体筛查。我们重点关注在≥5.0%的个体中高度多态性的CNV来总结数据,因为它们可能有助于阐明基因型与其表型之间的关系。我们在基因组中的16个不同BAC区域共发现了680个CNV。大多数多态性CNV出现在与节段性重复区域重叠的BAC克隆上,并且在该人群中观察到的大多数多态性CNV此前已在其他出版物中报道过。一些CNV包含可能与个体间表型异质性相关的基因。