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.
Highlights
Segmental copy-number variations (CNVs), involving the gain or loss of several hundreds of bases to several hundred kilobases of the genome, can be an important source of genetic variation among human populations of different ethnic groups as well as among individuals
We focus on CNVs which were observed at a high frequency (≥5.0% of the individuals) in the population residing in Hiroshima and Nagasaki, Japan by aCGH with bacterial artificial chromosome (BAC)-clones as targets
The majority of the clones used in Stage (1) of this study were selected from the set of cytogenetically mapped P1-artificial chromosome (PAC) clones and bacterial artificial chromosome (BAC) clones reported by the BAC Resource Consortium [19] and obtained from either the Children’s Hospital Oakland Research Institute (Oakland, CA, USA) or from Invitrogen Inc., Co. (Carlsbad, CA, USA)
Summary
Segmental copy-number variations (CNVs), involving the gain or loss of several hundreds of bases to several hundred kilobases (kb) of the genome, can be an important source of genetic variation among human populations of different ethnic groups as well as among individuals. This heterogeneity may contribute to noted phenotypic variations and different susceptibilities to various diseases. The results are not always consistent and it is likely that different human populations bear different CNVs. The numbers of Japanese individuals examined to date are not so large compared to the studies for other ethnicities [18]. We focus on CNVs which were observed at a high frequency (≥5.0% of the individuals) in the population residing in Hiroshima and Nagasaki, Japan by aCGH with BAC-clones as targets
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