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.
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| http://dx.doi.org/10.1016/j.fertnstert.2011.11.025 | DOI Listing |
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