PAX2 in 192 Chinese women with Mullerian duct abnormalities: mutation analysis

被引：16

作者：

Wang, Peng ^{[2
,3
]}

Zhao, Han ^{[2
,3
]}

Sun, Mei ^{[2
,3
]}

Li, Yuan ^{[1
]}

Chen, Zi-Jiang ^{[2
,3
]}

机构：

[1] Capital Med Univ, Beijing Chaoyang Hosp, Ctr Human Reprod, Beijing 100020, Peoples R China

[2] Shandong Univ, Prov Hosp, Ctr Reprod Med, Jinan 250021, Peoples R China

[3] Shandong Prov Key Lab Reprod Med, Jinan 250021, Peoples R China

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2012年 / 25卷 / 02期

基金：

中国国家自然科学基金;

关键词：

MRKH syndrome; mutation; Mullerian duct abnormalities; paired box gene 2; polymerase chain reaction; single-nucleotide polymorphism;

D O I：

10.1016/j.rbmo.2012.04.010

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The paired box gene 2 (PAX2) has been proven to be a crucial gene during organogenesis of the urogenital system in mice models. This study was aimed to explore the relationship between PAX2 mutations and human Mullerian duct abnormalities (MDA). A total of 192 Chinese MDA patients (15 cases of uterine aplasia and 177 of incomplete Mullerian fusion) and 192 ethnic-matched controls were recruited from 2009 to 2011. Coding regions of PAX2 of MDA cases were amplified and sequenced. One rare novel synonymous variant (c.320G > A) was discovered in one patient with uterus didelphys, whereas this variant was not found in the control group. Mutations in PAX2 may be not a common cause of MDA. RBMOnline (c) 2012, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：219 / 222

页数：4

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