論文

査読有り
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
  • Yoji Kukita
  • ,
  • Koji Yahara
  • ,
  • Tomoko Tahira
  • ,
  • Koichiro Higasa
  • ,
  • Miki Sonoda
  • ,
  • Ken Yamamoto
  • ,
  • Kiyoko Kato
  • ,
  • Norio Wake
  • ,
  • Kenshi Hayashi

86
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
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
  • DOI : 10.1016/j.ajhg.2010.05.003
  • ISSN : 0002-9297
  • CiNii Articles ID : 120002239171
  • PubMed ID : 20537301
  • Web of Science ID : WOS:000278948900009

エクスポート
BibTeX RIS