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PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis.
- Source :
-
Reproductive BioMedicine Online (Elsevier Science) . Aug2012, Vol. 25 Issue 2, p219-222. 4p. - Publication Year :
- 2012
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14726483
- Volume :
- 25
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Reproductive BioMedicine Online (Elsevier Science)
- Publication Type :
- Academic Journal
- Accession number :
- 84463855
- Full Text :
- https://doi.org/10.1016/j.rbmo.2012.04.010