中国苗勒管畸形患者中的WNT7A基因变异

Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, No. 324, Jing-5 Road, Jinan 250021, China

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. © 2012 American Society for Reproductive Medicine, Published by Elsevier Inc.

Chen, Z.-J.; Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, No. 324, Jing-5 Road, Jinan 250021, China; email: chenzijiang@hotmail.com