Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

Fertil Steril. 2012 Feb;97(2):391-4. doi: 10.1016/j.fertnstert.2011.11.025. Epub 2011 Dec 16.

Abstract

Objective: To search for WNT7A gene mutations in a cohort of 191 Chinese Han patients with müllerian duct abnormalities (MDAs).

Design: Phenotypic and mutational study.

Setting: University hospital.

Patient(s): A total of 191 Chinese Han patients with MDAs and 192 healthy control individuals.

Intervention(s): Genomic DNA extracted from blood samples, all coding regions amplified by polymerase chain reaction (PCR) then directly sequenced to screen variants.

Main outcome measure(s): Not applicable.

Result(s): The sequence analysis revealed one novel synonymous variant and three known single-nucleotide polymorphisms (SNPs).

Conclusion(s): The results indicate that mutations in the coding sequence of WNT7A are not responsible for müllerian duct abnormalities in the Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • Case-Control Studies
  • Chi-Square Distribution
  • China / epidemiology
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Hospitals, University
  • Humans
  • Mullerian Ducts / abnormalities*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Risk Assessment
  • Risk Factors
  • Urogenital Abnormalities / ethnology
  • Urogenital Abnormalities / genetics*
  • Wnt Proteins / genetics*
  • Young Adult

Substances

  • WNT7A protein, human
  • Wnt Proteins