title: Characteristics of highly polymorphic segmental copy-number variations observed in Japanese by BAC-array-CGH.
abstract: 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.
authors.affiliation: Department of Genetics, Radiation Effects Research Foundation, 5-2 Hijiyama Park, Minami-ku, Hiroshima 732-0815, Japan. takahash@rerf.or.jp
authors.forename: Norio
authors.initials: N
authors.lastname: Takahashi
authors.forename: Yasunari
authors.initials: Y
authors.lastname: Satoh
authors.forename: Keiko
authors.initials: K
authors.lastname: Sasaki
authors.forename: Yuko
authors.initials: Y
authors.lastname: Shimoichi
authors.forename: Keiko
authors.initials: K
authors.lastname: Sugita
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Katayama
mesh_terms: D015139:Blotting, Southern; D022202:Chromosomes, Artificial, Bacterial; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged