中华泌尿外科杂志
中華泌尿外科雜誌
중화비뇨외과잡지
CHINESE JOURNAL OF UROLOGY
2013年
2期
140-142
,共3页
卢少明%王来诚%张浩波%李晓%刘蛟龙%崔延义%陈子江
盧少明%王來誠%張浩波%李曉%劉蛟龍%崔延義%陳子江
로소명%왕래성%장호파%리효%류교룡%최연의%진자강
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
先天性雙側輸精管缺如%囊性纖維化跨膜傳導調節因子%聚閤酶鏈反應%堿基序列
선천성쌍측수정관결여%낭성섬유화과막전도조절인자%취합매련반응%감기서렬
Congenital bilateral absence of vas deferens%Cystic fibrosis transmembrane conductance regulator%Polymerase chain reaction%Base sequence
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-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I556V突变4例,M469V突变2例,E527N、△F508、L558S、S485C各1例.对照组85例均未见突变.两组间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.
目的 探討先天性雙側輸精管缺如(CBAVD)患者與囊性纖維化跨膜傳導調節因子(CFTR)基因突變的關繫. 方法 收集2007年5月至2009年5月85例CBAVD患者.CBAVD診斷依據:無精子；性激素4項正常；雙側輸精管未觸及；雙睪汍體積正常,附睪飽滿淤積.另設健康已生育男性85例作為對照.抽取外週血,應用聚閤酶鏈反應-單鏈構象多態及PCR產物直接序列測定法檢測患者及對照組CFTR基因第10,11外顯子,比較兩組的突變情況. 結果 CBAVD組85例,CFTR基因突變10例,佔11.8％,分彆是I556V突變4例,M469V突變2例,E527N、△F508、L558S、S485C各1例.對照組85例均未見突變.兩組間比較差異有統計學意義(x2=8.606,P=0.003).結論 CBAVD主要由CFTR基因突變引起,CFTR基因突變的位點與頻率與西方白種人有所不同.
목적 탐토선천성쌍측수정관결여(CBAVD)환자여낭성섬유화과막전도조절인자(CFTR)기인돌변적관계. 방법 수집2007년5월지2009년5월85례CBAVD환자.CBAVD진단의거:무정자；성격소4항정상；쌍측수정관미촉급；쌍고환체적정상,부고포만어적.령설건강이생육남성85례작위대조.추취외주혈,응용취합매련반응-단련구상다태급PCR산물직접서렬측정법검측환자급대조조CFTR기인제10,11외현자,비교량조적돌변정황. 결과 CBAVD조85례,CFTR기인돌변10례,점11.8％,분별시I556V돌변4례,M469V돌변2례,E527N、△F508、L558S、S485C각1례.대조조85례균미견돌변.량조간비교차이유통계학의의(x2=8.606,P=0.003).결론 CBAVD주요유CFTR기인돌변인기,CFTR기인돌변적위점여빈솔여서방백충인유소불동.
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.
