双侧输精管缺如等三种不育患者CFTR基因突变筛查  

Screening Mutation of CFTR Gene in Chinese With Three Sterility:Congennital Bilateral Absence of Vas Deferens,Idiopathic Oligozoospermia and Idiopathic Azoospermia

作　　者：陈荣安[1] 许良余[1] 江利[1] 向桂桥[1] 张益康[1] 李欣欢[1] 

机构地区：[1]南华大学第一附属医院,湖南衡阳421001

出　　处：《南华大学学报（医学版）》2006年第4期515-518,529,共5页Journal of Nanhua University(Medical Edition)

基　　金：南华大学资助课题(DS02229)

摘　　要：目的探讨国人先天性双侧输精管缺如(CBAVD)、特发性少精子症(idiopathic oligospermia,IO)及特发性无精子症(idiopathic azoospermia,IA)患者CFTR基因有无突变,从而为患者行辅助生殖胚胎种植前是否需行常规的遗传学诊断提供依据。方法运用银染聚合酶链-单链构象多态性技术对25例CBAVD,40例IO,25例IA患者周围静脉血白细胞DNA的CFTR基因的2、3、4、5、7A、8、9、10、11、12、13A、14a、14b、15B1、9B、20、21、23共18个外显子进行检测。结果上述患者CFTR基因的18个外显子均未发现异常单链条带或位移。结论本组所检测的CFTR基因突变与国人精子发生尚无明确的相关性,国人在实施辅助生殖胚胎种植前是否需常规行CFTR基因突变检测有待进一步研究。Objective To detect cystic fibrosis transmembrane conductance regulator（ CFTR） gene mutation in Chinese patients with congenital biteral absence of the vas deferens （ CBAVD ）, Severe oligozoospennia and non - obstructed azoospennia for the purpose to find out a reliable criterion before the preimplantation genetic diagnosis （PGD） of assisted reproduction. Methods We extracting peripheral venous blood leucocyte DNA and doing polymerase chain reaction- single strand Conformation Polymerphism to detect 18 CFTR exons involving2, 3,4,5, 7A,8,9,10, 11,12, 13A, 14a, 14b, 15B, 19B,20,21,23. Results No mutation had to be detected in patients with CBAVD, idiopathic oligozoospennia, idiopathic azoospemfia and healthy men. Conclusions The Chinese patiens with CBAVD, idiopathic ohgozoospennia and idiopathic azoospermia were not associated with CFTR gene mutation. CFTR gene mutation is not definitely correlated with etiological factor and spermatogenesis of CBAVD, idiopathic oligozoospemfia and idiopathic azoospennia. There are not definitely evidence that we need routinely screene CFTR gene mutation before PGD of assisted reproduction .

关 键 词：CFFR 突变 CBAVD 特发性少精子症 特发性无精子症 PGD 

分 类 号：R698.2[医药卫生—泌尿科学]