CFTR基因第8内含子5T多态与中国汉族男性先天性双侧输精管缺如的相关性研究  

Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients

作　　者：刘丽君[1] 李红钢[1] 辜秀丽[1] 朱继望[1] 赵凯[1] 唐艳平 熊承良[1] 

机构地区：[1]华中科技大学同济医学院计划生育研究所,武汉同济生殖医学专科医院,武汉430030 [2]基础医学院医学遗传学系

出　　处：《中华医学遗传学杂志》2013年第6期729-732,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究囊性纤维化转运调节因子（cysticfibrosistransmembraneconductanceregulator，CFTR）基因第8内含子中的5T等位基因多态性与中国汉族男性先天性输精管缺如（congenitalbilateralabsenceofvasdeferens，CBAVD）的相关性。方法选择33例CBAVD患者和99例不存在CBAVD的无精症患者，提取其基因组DNA，用聚合酶链反应扩增CFTR基因的第8内含子，对产物进行TA克隆后测序。结果33例CBAVD男性患者中有17例存在5T多态，异常比例为51．5％，其中有3例患者在2个等位基因上同时为5T多态，占5T多态的17．6％，占总体异常比例的9．1％。99例男性无精症患者对照中有9例存在5T多态，异常比例为9．1％，未发现2个等位基因同时为5T多态者。结论中国汉族男性CBAVD的发生和CFTR基因5T突变有明显的相关性，5T突变阴性的CBAVD患者不排除存在CFTR基因其他突变的可能性。Objective To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmemhrane conductance regulator （CFTR） gene and congenital bilaterai absence of vas deferens （CBAVD） in Hun 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.

关 键 词：囊性纤维化 囊性纤维化转运调节因子 先天性双侧输精管缺如 无精症 

分 类 号：R698.2[医药卫生—泌尿科学]