CAJ | 학술논문

目的研究囊性纤维化转运调节因子(cystic fibrosis transmembrane conductance regulator,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(congenital bilateral absence of vas deferens,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.
목적 연구낭성섬유화전운조절인자(cystic fibrosis transmembrane conductance regulator,CFTR)기인제8내함자중적5T등위기인다태성여중국한족남성선천성수정관결여(congenital bilateral absence of vas deferens,CBAVD)적상관성.방법 선택33례CBAVD환자화99례불존재CBAVD적무정증환자,제취기기인조DNA,용취합매련반응확증CFTR기인적제8내함자,대산물진행TA극륭후측서.결과 33례CBAVD남성환자중유17례존재5T다태,이상비례위51.5％,기중유3례환자재2개등위기인상동시위5T다태,점5T다태적17.6％,점총체이상비례적9.1％.99례남성무정증환자대조중유9례존재5T다태,이상비례위9.1％,미발현2개등위기인동시위5T다태자.결론 중국한족남성CBAVD적발생화CFTR기인5T돌변유명현적상관성,5T돌변음성적CBAVD환자불배제존재CFTR기인기타돌변적가능성.
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.