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

Capsule:
One novel synonymous variant and three known single-nucleotide polymorphisms in WNT7A were identified in 191 Chinese patients with m€ullerian duct abnormalities.

Authors:
Yujie Dang, M.Sc., Yingying Qin, M.D., Ph.D., Rong Tang, M.D., Ph.D., Yulan Mu, M.D., Ph.D., Guangyu Li, M.Sc., Mingdi Xia, M.Sc., Zi-Jiang Chen, M.D., Ph.D.
Volume 97, Issue 2 , Pages 391-394.e1, February 2012

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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