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

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

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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

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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(11)02801-9/fulltext

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