囊性纤维化跨膜转导调节因子基因多态性与男性先天性双侧输精管缺如的相关性研究  

Association of CFTR gene polymorphism with congenital bilateral absence of the vas deferens

作　　者：赵文忠[1] 罗招凡[2] 钟安[1] 周雨[1] 朱志勇[1] 

机构地区：[1]广东省计划生育科学技术研究所国家卫计委男性生殖与遗传重点实验室,广东广州510600 [2]中山大学附属第七医院检验科,广东深圳518017

出　　处：《中国卫生检验杂志》2017年第19期2742-2745,共4页Chinese Journal of Health Laboratory Technology

基　　金：广东省自然科学基金资助(2014A030313721)

摘　　要：目的研究囊性纤维化转运调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因多态性与男性先天性输精管缺如(congenital bilateral absence of vas deferens,CBAVD)的相关性。方法选择30例CBAVD患者和30例健康捐精者,提取其基因组DNA。CFTR基因的DNA片段采用PCR的方法进行扩增。多聚T(poly-T)TG、重复序列和M470V突变直接用自动测序仪进行测定。进行基因多态性分析。结果 CBAVD患者CFTR基因poly-T、TG重复有8种类型,健康捐精者有5种。CFTR基因poly-T、TG重复序列,M470V多态性单位点分析表明,3T、(TG)12、(TG)13差异有统计学意义,M470V等位基因分布频率差异无统计学意义(P>0.05)。双位点联合分析,(TG)13T3差异有统计学意义(P<0.05);三位点联合分析,T5-TG13-M差异有统计学意义(P<0.05)。结论 CFTR单倍型3T,(TG)12、(TG)13(TG)13T3、T5-TG13-M与CBAVD有明显的相关性。Objective To assess the association between polymorphism in cystic fibrosis transmembrane conductance regulator（ CFTR） gene and congenital bilateral absence of vas deferens（ CBAVD）. Methods Genomic DNA from 30 individuals with CBAVD and 30 healthy donors was extracted from whole blood. DNA fragments of CFTR gene were amplified by polymerase chain reaction（ PCR）. Poly-T,TG repeats and M470 V were directly sequenced by auto sequencer. CFTR gene polymorphism was analyzed statistically. Results Based on poly-T,TG repeat,there were 8 genotypes in CBAVD patients while there are 5genotypes in healthy donors. The differences in the distribution frequencies of CFTR poly-T gene,TG repeatability and M470 V genotype indicated that the distribution frequencies of 3T,（ TG） 12,（ TG） 13 had statistical significance on the difference（ P〈0. 05）. The difference in distribution frequencies of M470 V was not statistically significant（ P〈0. 05）. Double haplotype analysis showed that the difference in the distribution frequencies of（ TG） 13T3 had statistical significance（ P〈0. 05）. The difference in the distribution frequencies of T5-TG13-M had statistical significance based on three haplotype analysis（ P〈0. 05）.Conclusion The haplotype 3T,（ TG） 12,（ TG） 13（ TG） 13T3,T5-TG13-M are associated with the CBAVD.

关 键 词：囊性纤维化转运调节因子 先天性双侧输精管缺如 多态性 

分 类 号：R698.2[医药卫生—泌尿科学]