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.

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