2010年6月
A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events
AMERICAN JOURNAL OF HUMAN GENETICS
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- 巻
- 86
- 号
- 6
- 開始ページ
- 918
- 終了ページ
- 928
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.ajhg.2010.05.003
- 出版者・発行元
- CELL PRESS
The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of SNPs and copy-number variations (CNVs), because all of the genetic variants in a CHM genome are homozygous. Here we report SNP and CNV haplotype structures determined by analysis of 100 CHMs from Japanese subjects via high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps because of inherent structural instability.
- リンク情報
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- DOI
- https://doi.org/10.1016/j.ajhg.2010.05.003
- CiNii Articles
- http://ci.nii.ac.jp/naid/120002239171
- PubMed
- https://www.ncbi.nlm.nih.gov/pubmed/20537301
- Web of Science
- https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000278948900009&DestApp=WOS_CPL
- ID情報
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- DOI : 10.1016/j.ajhg.2010.05.003
- ISSN : 0002-9297
- CiNii Articles ID : 120002239171
- PubMed ID : 20537301
- Web of Science ID : WOS:000278948900009