[汉族患者中CFTR基因多态性与先天性双侧输精管缺如的关联]
[Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients].
作者信息
Liu Li-jun, Li Hong-gang, Gu Xiuli, Zhu Ji-wang, Zhao Kai, Tang Yan-ping, Xiong Cheng-liang
机构信息
Family Planning Research Institute, Tongji Specialized Hospital of Reproductive Medicine, Tongji Medical School, Hua-zhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):729-32. doi: 10.3760/cma.j.issn.1003-9406.2013.06.021.
OBJECTIVE
To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.
METHODS
Genomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.
RESULTS
CFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.
CONCLUSION
This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.
目的
评估囊性纤维化跨膜传导调节因子（CFTR）基因第8内含子5T多态性与汉族男性先天性双侧输精管缺如（CBAVD）之间的关联。
方法
招募了33例CBAVD患者和99例无精子症且患有CBAVD的男性的基因组DNA。采用聚合酶链反应（PCR）检测5T多态性，进行TA克隆并测序。
结果
在17例（51.5%）CBAVD患者中鉴定出CFTR基因突变。在3例患者（17.6%）中，两个等位基因均检测到突变。在99例无精子症患者中检测到9个CFTR基因突变（9.1%），这些患者均无两个等位基因同时突变的情况。
结论
本研究证实了CBAVD中CFTR突变的分子异质性。对于无5T突变的CBAVD患者，同一基因中可能存在其他变化。
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