无精子症因子区域和SRY的拷贝数变异与尿道下裂风险无关。

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

作者信息

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

机构信息

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

出版信息

Sex Dev. 2016;10(1):12-5. doi: 10.1159/000444938. Epub 2016 Mar 30.

DOI:10.1159/000444938

PMID:27023068

Abstract

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.

摘要

我们调查了患有尿道下裂的日本儿童Y染色体上拷贝数变异（CNV）的频率。我们使用多重连接依赖探针扩增技术分析了无精子症因子（AZF）区域和SRY的拷贝数。在89例患者中的39例中鉴定出4种与AZF相关的CNV，包括1种新的简单重复，其频率与未受影响个体的频率相当。我们的患者中不存在与SRY相关的CNV。结果表明，AZF区域和SRY中的CNV与日本人群中尿道下裂的风险无关，尽管与AZF相关的简单重复的致病性仍有待阐明。