Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

Jinlong Ma; Yingying Qin; Wen Liu; Hua Duan; Mingdi Xia; Zi-Jiang Chen

doi:10.1016/j.fertnstert.2011.04.074

Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

Fertil Steril. 2011 Jun 30;95(8):2615-7. doi: 10.1016/j.fertnstert.2011.04.074. Epub 2011 May 14.

Authors

Jinlong Ma¹, Yingying Qin, Wen Liu, Hua Duan, Mingdi Xia, Zi-Jiang Chen

Affiliation

¹ Center for Reproductive Medicine, Provincial Hospital affiliated with Shandong University, Jinan, People's Republic of China.

PMID: 21575942
DOI: 10.1016/j.fertnstert.2011.04.074

Abstract

We examined the PBX1 gene in 192 Chinese women with Müllerian duct abnormalities and revealed 2 known single nucleotide polymorphisms: c.61 > A in exon 1 and c.998-1330A>G in intron 7. Future studies in large cohorts of different ethnic populations are warranted to establish definite associations between the PBX1 gene and Müllerian duct abnormalities.

Publication types

Multicenter Study
Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics*
China
DNA-Binding Proteins / genetics*
Exons
Female
Genetic Predisposition to Disease
Humans
Introns
Mullerian Ducts / abnormalities*
Mutation*
Phenotype
Polymorphism, Single Nucleotide*
Pre-B-Cell Leukemia Transcription Factor 1
Proto-Oncogene Proteins / genetics*
Urogenital Abnormalities / diagnosis
Urogenital Abnormalities / ethnology
Urogenital Abnormalities / genetics*

Substances

DNA-Binding Proteins
Pre-B-Cell Leukemia Transcription Factor 1
Proto-Oncogene Proteins
PBX1 protein, human