WNT9B in 542 Chinese women with Mullerian duct abnormalities: mutation analysis

被引:15
|
作者
Tang, Rong [1 ,2 ,3 ,4 ]
Dang, Yujie [1 ,2 ,3 ,4 ]
Qin, Yingying [1 ,2 ,3 ,4 ]
Zou, Shuhua [5 ]
Li, Guangyu [1 ,2 ,3 ,4 ]
Wang, Yu [6 ]
Chen, Zi-Jiang [1 ,2 ,3 ,4 ,6 ]
机构
[1] Shandong Univ, Prov Hosp Affiliated, Ctr Reprod Med, Jinan 250021, Peoples R China
[2] Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan 250021, Peoples R China
[3] Key Lab Reprod Endocrinol, Minist Educ, Jinan 250021, Peoples R China
[4] Shandong Prov Key Lab Reprod Med, Jinan 250021, Peoples R China
[5] Qingdao Women & Children Med Healthcare Ctr, Qingdao 266000, Peoples R China
[6] Shanghai Jiao Tong Univ, Renji Hosp, Ctr Reprod Med, Sch Med, Shanghai 200030, Peoples R China
基金
中国国家自然科学基金;
关键词
Mullerian duct abnormalities; single-nucleotide polymorphisms; synonymous; WNT9B; mutation; MRKH syndrome; CONGENITAL UTERINE ANOMALIES; MAMMARY ONCOGENE INT-1; FEMALE GENITAL-TRACT; GENE; EXPRESSION; SYSTEM; CLASSIFICATION; MALFORMATIONS; PREVALENCE; DIAGNOSIS;
D O I
10.1016/j.rbmo.2013.11.011
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
The WNT9B gene is a common organizing signal regulating different segments of the mammalian urogenital system and plays a primary role in the development of the female reproductive tract. The aim of the present work was to examine the presence of WNT mutations in a population of women with Mullerian duct abnormalities (MDA) in order to elucidate whether mutations in WNT9B are causative for MDA in Chinese women. Initially, 191 Chinese MDA patients and 192 healthy individuals (controls) were recruited. All coding regions were amplified by PCR and sequenced to search for variants. To verify the initial results, the numbers of patients and ethnic-matched controls were expanded to 542 and 563, respectively. One known single-nucleotide polymorphism and four novel variants were identified in the first stage: two were synonymous; the other two were rare nonsynonymous novel variants (c.566G>A (p.Arg189Gln) and c.773G>A (p.Arg258His)). None of the four novel variants was found in controls. In the second stage, both novel nonsynonymous variants were detected in MDA cases and controls. The results indicate that mutations in the coding sequence of WNT9B are not responsible for MDA in the Chinese population. (C) 2013, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:503 / 507
页数:5
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