CFTR gene mutation in patients with congenital bilateral absence of vas deferens
10.3760/cma.j.issn.1000-6702.2013.02.017
- VernacularTitle:先天性双侧输精管缺如患者囊性纤维化跨膜传导调节因子基因的检测
- Author:
Shaoming LU
;
Laicheng WANG
;
Haobo ZHANG
;
Xiao LI
;
Jiaolong LIU
;
Yanyi CUI
;
Zijiang CHEN
- Publication Type:Journal Article
- Keywords:
Congenital bilateral absence of vas deferens;
Cystic fibrosis transmembrane conductance regulator;
Polymerase chain reaction;
Base sequence
- From:
Chinese Journal of Urology
2013;(2):140-142
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the frequency of cystic fibrosis transmembrane conductance regulator(CFTR)mutations in patients with congenital bilateral absence of vas deferens(CBAVD).Methods Eighty-five CBAVD patients were collected from May 2007 to May 2009.The diagnosis of CBAVD included azoospermia,normal of 4 sex hormone items,absence of seminal vesicle,normal volume of testicular and epididymis dilated siltation.And 85 normal fertile men served as controls.Genomic DNA was isolated from peripheral blood.The mutations of CFTR exons 10,11 were detected by PCR-single strand conformation polymorphism,and direct sequencing was performed on 85 cases of CBAVD and the control males.Results Of the 85 CBAVD,10 cases(11.8％)exhibited an abnormal CFTR gene mutation,with 4 cases I556V,2 cases M469V,and 1 case of E527N,A F508,L558S,S485C.No mutations were detected in 85 controls.There was a significant difference between the 2 groups(x2 =8.606,P =0.003).Conclusions CBAVD might be caused by the CFTR mutations.The frequencies and the spectrum of CFTR mutations might be different from those Caucasian population in the west country.
