| 陈荣安,许良余,江利,向桂桥,张益康,李欣欢.双侧输精管缺如等三种不育患者CFTR基因突变筛查.[J].中南医学科学杂志.,2006,(4):515-519. |
| 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 |
| 修订日期：2006-04-05 |
| DOI： |
| 中文关键词: 突变 特发性少精子症 特发性无精子症 |
| 英文关键词:CFTR CBAVD PGD |
| 基金项目:南华大学校科研和教改项目 |
| 陈荣安 许良余 江利 向桂桥 张益康 李欣欢 |
| 南华大学第一附属医院,湖南衡阳421001 |
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| 中文摘要: |
| 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 oligospennia，IO）及特发性无精子症（idiopathic azoospennia，IA）患者CFFR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一单链构象多态性技术对25例CBAVD，40例IO，25例n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、15B、19B、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CFFR基因突变检测有待进一步研究。 |
| 英文摘要: |
| Objective To detect cystic fibrosis transmembrane conductance regulator(CFTR) gene mutation in Chinese patients with congenital biteral absence of the vas deferens(CBAVD),Severe oligozoospermia and non-obstructed azoospermia 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 oligozoospermia,idiopathic azoospermia and healthy men.Conclusions The Chinese patiens with CBAVD,idiopathic oligozoospermia 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 oligozoospermia and idiopathic azoospermia.There are not definitely evidence that we need routinely screene CFTR gene mutation before PGD of assisted reproduction |
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