論文

査読有り
2016年

Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of Hypospadias

SEXUAL DEVELOPMENT
  • Masafumi Kon
  • ,
  • Kazuki Saito
  • ,
  • Takahiko Mitsui
  • ,
  • Mami Miyado
  • ,
  • Maki Igarashi
  • ,
  • Kimihiko Moriya
  • ,
  • Katsuya Nonomura
  • ,
  • Nobuo Shinohara
  • ,
  • Tsutomu Ogata
  • ,
  • Maki Fukami

10
1
開始ページ
12
終了ページ
15
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1159/000444938
出版者・発行元
KARGER

We investigated the frequency of copy number variations (CNVs) in the Y chromosome of Japanese children with hypospadias. We analyzed the copy number of the azoospermia factor (AZF) region and SRY, using multiplex ligation-dependent probe amplification. Four AZF-linked CNVs, including one novel simple duplication, were identified in 39 of 89 patients, at a frequency comparable to that of those in unaffected individuals. SRY-linked CNVs were absent in our patients. The results imply that CNVs in the AZF region and SRY are not associated with the risk of hypospadias in the Japanese population, although the pathogenicity of the AZF-linked simple duplication remains to be elucidated. (C) 2016 S. Karger AG, Basel

Web of Science ® 被引用回数 : 1

リンク情報
DOI
https://doi.org/10.1159/000444938
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/27023068
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000375788600002&DestApp=WOS_CPL

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