先天性单侧输精管缺如合并无精子症CFTR基因突变检测  

Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens

作　　者：杨晓健[1] 袁萍[2] 吴晓[1] 张浩[1] 贺情情 张炎[1] 

机构地区：[1]中山大学附属第三医院泌尿外科,广东广州510630 [2]中山大学孙逸仙纪念医院生殖中心,广东广州510120

出　　处：《中华男科学杂志》2015年第3期229-233,共5页National Journal of Andrology

摘　　要：目的:探讨先天性单侧输精管缺如(CUAVD)合并无精子症患者囊性纤维化跨膜转导(CFTR)基因全外显子检测的结果与意义。方法:抽取CUAVD合并无精子症6例患者外周血行CFTR全外显子突变及多态性检测,测序结果与UCSC Genome Browser on Human Dec.2013 Assembly进行在线比对及分析。结果:6例CUAVD合并无精子症患者中,1例第6号外显子中可检测到1个已知错义突变c.592G>C,2例患者第10号外显子前非编码区域发现c.1210-12T[5]剪切突变,且该2例患者合并第11号外显子上V470单倍体。结论:CUAVD合并无精子症患者CFTR全外显子基因突变有一定的检出率,有必要对这部分患者进行CFTR基因突变检测。Objective： To discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens（ CUAVD）. Methods： We collected peripheral blood samples from 6azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly. Results： Missense mutation of c. 592 G 〉 C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients,both with the V470 haplotype in exon 11.Conclusion： Mutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.

关 键 词：先天性单侧输精管缺如 无精子症 囊性纤维化跨膜转导基因 DNA测序 

分 类 号：R698.2[医药卫生—泌尿科学]