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目的研究男性先天性双侧输精管缺如(CBAVD)患者其囊性纤维化跨膜转运调节物(CFTR)基因第10号外显子区域上△F508的突变情况。方法应用聚合酶链反应(PCR)及PCR产物直接测序的方法检测了32例CBAVD患者和32例健康生育男性CFTR基因第10号外显子区域上△F508的突变情况。结果两组检查均没有发现△F508突变。结论△F508突变是国外白种人CBAVD患者最常见的一种基因突变,而对中国人来说检测该突变意义可能不大。
Objective To investigate the mutation of △ F508 in exon 10 of cystic fibrosis transmembrane transport regulator (CFTR) gene in male patients with congenital bilateral vas deferens (CBAVD). Methods The mutation of △ F508 in exon 10 of CFTR gene in 32 patients with CBAVD and 32 healthy males was detected by polymerase chain reaction (PCR) and direct sequencing of PCR products. Results △ F508 mutation was not found in both groups. Conclusion △ F508 mutation is one of the most common genetic mutations in Caucasian CBAVD patients, but it may not be significant for Chinese to detect this mutation.