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  

CFTR gene mutation in patients with congenital bilateral absence of vas deferens

作　　者：卢少明[1] 王来诚[2] 张浩波[1] 李晓[1] 刘蛟龙[1] 崔延义[1] 陈子江[1] 

机构地区：[1]山东大学附属省立医院生殖医学中心,济南250021 [2]山东大学附属省立医院实验中心,济南250021

出　　处：《中华泌尿外科杂志》2013年第2期140-142,共3页Chinese Journal of Urology

基　　金：山东省医药卫生科技发展计划项目（2011HZ065）

摘　　要：目的探讨先天性双侧输精管缺如（CBAVD）患者与囊性纤维化跨膜传导调节因子（CFTR）基因突变的关系。方法收集2007年5月至2009年5月85例CBAVD患者。CBAVD诊断依据：无精子；性激素4项正常；双侧输精管未触及；双睾丸体积正常，附睾饱满淤积。另设健康已生育男性85例作为对照。抽取外周血，应用聚合酶链反应一单链构象多态及PCR产物直接序列测定法检测患者及对照组CFTR基因第10，11外显子，比较两组的突变情况。结果CBAVD组85例，CFTR基因突变10例，占11．8％，分别是1556V突变4例，M469V突变2例，E527N、△F508、L558S、$485C各1例。对照组85例均未见突变。两组问比较差异有统计学意义（X2=8．606，P=0．003）。结论CBAVD主要由CFTR基因突变引起，CFTR基因突变的位点与频率与西方白种人有所不同。Objective To study the frequency of cystic fibrosis transmembrane conductance regula- tor （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 testieular and epididymis dilated siltation. And 85 normal fertile men served as controls. Genomie DNA was isolated from peripheral blood. The mutations of CFTR exons 10, 11 were detected by PCR-single strand conformation pol- ymorphism, 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 M469＂V, and 1 case of E527N, AF508, 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 dif- ferent from those Caucasian population in the west country.

关 键 词：先天性双侧输精管缺如 囊性纤维化跨膜传导调节因子 聚合酶链反应 碱基序列 

分 类 号：R697.25[医药卫生—泌尿科学]