中国先天性双侧输精管缺如患者CFTR基因全部外显子突变检测  

Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens

作　　者：杜强[1] 方媛媛[1] 潘永峰[2] 潘伯臣[1] 宋永胜[3] 吴斌[3] 

机构地区：[1]中国医科大学附属盛京医院生殖中心,辽宁沈阳110004 [2]沈阳市刑事科学技术研究所,辽宁沈阳110002 [3]中国医科大学附属盛京医院泌尿外科,辽宁沈阳110004

出　　处：《中华男科学杂志》2012年第11期999-1003,共5页National Journal of Andrology

摘　　要：目的:探讨我国先天性双侧输精管缺如患者CFTR基因检测的必要性。方法:采用PCR技术结合DNA直接测序的方法检测9例先天性双侧输精管缺如患者CFTR基因全部外显子的突变情况,并在NCBI和Cystic Fibrosis Mutation Database在线比对。结果:除非编码区突变和已经报道的SNP位点之外,9例先天性双侧输精管缺如患者中4例新发现4种不同于西方人已知突变类型的外显子区突变,均为杂合子错义突变。结论:中国先天性双侧输精管缺如患者CFTR基因外显子区存在不同于西方人的突变,有必要对中国先天性双侧输精管缺如患者进行CFTR基因突变检测。Objective： To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator fac- tor （CFTR） in Chinese men with congenital bilateral absence of the vas deferens （CBAVD）. Methods ： We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fi- brosis Mutation Database. Results： Four novel missense mutations / variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database. Conclusion： There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.

关 键 词：先天性双侧输精管缺如 CFTR基因 男性不育 突变 DNA测序 

分 类 号：R698.2[医药卫生—泌尿科学]