کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3970462 | 1256725 | 2012 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis](/preview/png/3970462.png)
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.The upper part of the vagina, the uterus and the Fallopian tubes is derived from the embryonic Müllerian duct. Müllerian duct malformation consists of a miscellaneous group of congenital anomalies of the female reproductive duct. To date, researchers have done a large amount of work to define the aetiology of this malformation; however, it remains a mystery. 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 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. In the Han Chinese population, mutations in PAX2 may be not a common cause of MDAs.
Journal: Reproductive BioMedicine Online - Volume 25, Issue 2, August 2012, Pages 219–222