Definitive SNP/CNV haplotype map of Asians determined using a collection of complete hydatidiform moles (Affymetrix)
ABSTRACT: Copy number variations (CNVs) are abundant, possibly variable among populations, and can confer various phenotypic variations such as risk to complex disease. We determined a genome-wide high resolution SNP/CNV haplotype structure of Asians, by analyzing a collection of complete hydatidiform moles (CHMs) of Japanese, using high-density DNA arrays. CHMs are tissues carrying duplicated haploid genomes that originated from single sperm, and have advantages as materials over conventional diploid cells in detecting CNVs by hybridization, because greater S/N ratios are expected, and overlapping CNV segments are independently detected without being bothered by possible heterozygous situations. Overall occupancy of CNV segments per haploid found here was at a level similar to previous reports. Approximately a half of our polymorphic CNV regions have not been described in the previous report for Asians, but the frequencies of most of these new CNV regions were low. The limited number of examined samples is likely to be the reason that they have escaped detection in the previous report. Many common CNV regions are resolvable to clusters of CNV segmets (that is, CNV events) on the basis of mutual overlap of the segments. The similarity of haplotype backgrounds surrounding different CNV events within the same CNV regions suggests that ancestral recurrences of CNV events were predominantly haplotype preferential. Overall design: SNP 6.0 array (Affymetrix) analyses were performed according to the manufacturer's directions on DNA extracted from 100 complete hydatidiform moles (CHMs) tissues collected throughout Japan. Copy number analysis was performed for 100 CHM samples. All samples were also used as references for copy number inference.
INSTRUMENT(S): [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
ORGANISM(S): Homo Sapiens
SUBMITTER: Kenshi Hayashi
PROVIDER: GSE18642 | GEO | 2010-05-17
SECONDARY ACCESSION(S): PRJNA123815