Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, People's Republic of China.
Reprod Biomed Online. 2012 Aug;25(2):219-22. doi: 10.1016/j.rbmo.2012.04.010. Epub 2012 Apr 30.
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 Müllerian duct abnormalities (MDA). A total of 192 Chinese MDA patients (15 cases of uterine aplasia and 177 of incomplete Müllerian 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.
配对盒基因 2 (PAX2) 已被证明在小鼠模型的泌尿生殖系统器官发生过程中是一个关键基因。本研究旨在探讨 PAX2 突变与人类 Müllerian 管异常 (MDA) 之间的关系。我们于 2009 年至 2011 年招募了 192 名中国 MDA 患者（15 例子宫发育不全和 177 例不完全 Müllerian 融合）和 192 名种族匹配的对照者。扩增并测序了 MDA 患者的 PAX2 编码区。在 1 例双子宫患者中发现了 1 个罕见的同义新变异（c.320G>A），而对照组中未发现该变异。PAX2 的突变可能不是 MDA 的常见原因。
