Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.
Reprod Biomed Online. 2012 Jun;24(6):630-3. doi: 10.1016/j.rbmo.2012.03.008. Epub 2012 Mar 18.
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 Müllerian duct abnormalities (10 Mayer-Rokitansky-Küster-Hauser syndrome, five Müllerian aplasia and 174 incomplete Müllerian 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 Müllerian duct abnormalities in Chinese women.
WNT4 基因在性别分化和女性生殖道发育中起着关键作用。本研究在 189 名患有苗勒管发育异常的中国女性（10 例 Mayer-Rokitansky-Küster-Hauser 综合征、5 例苗勒管发育不全和 174 例不完全苗勒管融合）中筛选 WNT4 的突变，未发现表明 WNT4 起主要作用的明显扰动。仅在外显子 5 中发现一个新的同义突变（c.1091G>A）和一个已知的单核苷酸多态性（rs16826648）在外显子 2 中。结果表明，WNT4 可能不会导致中国女性苗勒管发育异常的发生。
