WNT7A 基因变异与中国人苗勒管发育异常。
Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities.
机构信息
Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, People's Republic of China.
出版信息
Fertil Steril. 2012 Feb;97(2):391-4. doi: 10.1016/j.fertnstert.2011.11.025. Epub 2011 Dec 16.
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.
目的
在 191 例中国汉族苗勒管发育异常（MDA）患者中寻找 WNT7A 基因突变。
设计
表型和突变研究。
地点
大学医院。
患者
共 191 例中国汉族 MDA 患者和 192 名健康对照个体。
干预
从血液样本中提取基因组 DNA，通过聚合酶链反应（PCR）扩增所有编码区，然后直接测序筛选变异。
主要观察指标
不适用。
结果
序列分析显示了一个新的同义变异和三个已知的单核苷酸多态性（SNP）。
结论
结果表明，WNT7A 编码序列中的突变不是中国人群苗勒管发育异常的原因。
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