Mutations in WNT4 are not responsible for Mullerian duct abnormalities in Chinese women
Mutations in WNT4 are not responsible for Mullerian duct abnormalities in Chinese women
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DOI：
10.1016/j.rbmo.2012.03.008
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发表时间：
2012-06-01
影响因子：
4
通讯作者：
Chen, Zi-Jiang
中科院分区：
文献类型：
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作者：
Chang, Xinyue;Qin, Yingying;Chen, Zi-Jiang
WNT 4基因在性分化和女性生殖道发育中起着至关重要的作用。本研究在189例中国女性苗勒管异常（10例Mayer-Rokitansky-Kuster-Hauser综合征，5例苗勒管发育不全和174例苗勒管不完全融合）中筛选WNT 4突变，未检测到表明WNT 4主要作用的扰动。只有一个新的同义突变（C。结果表明，WNT 4基因在中国女性苗勒管畸形的发病机制中可能没有作用。(C)2012年，爱思唯尔有限公司出版的生殖保健有限公司。版权所有。
The WNT4 gene plays a crucial role in sexual differentiation and female genital tract development. This study screened WNT4 for mutation in 189 Chinese women with Mullerian duct abnormalities (10 Mayer-Rokitansky-Kuster-Hauser syndrome, five Mullerian aplasia and 174 incomplete Mullerian fusion) and detected no perturbation that would indicate a major role for WNT4. Only one novel synonymous mutation (c. 1091G > A) in exon 5 and one known single-nucleotide polymorphism (rs16826648) in exon 2 were found. The results suggest that WNT4 might not contribute to the aetiology of Mullerian duct abnormalities in Chinese women. (C) 2012, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.