Mutations in WNT4 are not responsible for Mullerian duct abnormalities in Chinese women

REPRODUCTIVE BIOMEDICINE ONLINE

卷:24

Article

Chang, Xinyue^1,2  Qin, Yingying^1,2  Xu, Chengyan^1,2  Li, Guangyu^1,2  Zhao, Xiaoming³  Chen, Zi-Jiang^1,2 

[1] Shandong Univ, Prov Hosp, Ctr Reprod Med, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan, Peoples R China

[2] Shandong Prov Key Lab Reprod Med, Minist Educ, Key Lab Reprod Endocrinol, Jinan 250021, Peoples R China

[3] Shanghai Jiao Tong Univ, Renji Hosp, Ctr Reprod Med, Shanghai 200001, Peoples R China

关键词: Mullerian duct abnormalities;    MRKH syndrome;    mutation;    SNP;    WNT4;   

DOI  :  10.1016/j.rbmo.2012.03.008

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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