中国男性不育患者CFTR基因M470V检测及其意义

摘要

目的:明确我国生育力正常男性人群和男性不育人群中的CFTR基因M470V多态性分布情况,以探讨CFTR基因M470V多态性改变与男性不育之间的关系.方法:知情同意的情况下收集临床诊断明确的非梗阻性无精子症患者67例、先天性双侧输精管缺如患者95例,以及因女方因素拟行试管婴儿助孕、精液常规检查正常的男性135例.外周血基因组DNA抽提,应用Cycling probe法检测M470V SNP类型,应用SPSS 13.0进行数据分析,使用卡方检验,P＜0.05视为有显著性差异.结果:三组比较(生育力正常男性人群与先天性双侧输精管缺如患者以及非梗阻性无精子症患者)CFTR基因M470V基因型和等位基因分布频率无统计学差异(P值分别为0.4221和0.1794,P＞0.05).MV基因型为最常见的基因型,在生育力正常男性人群中的基因型频率为0.4296,其次为VV基因型,基因型频率为0.3704,最少见的为MM基因型,基因型频率为0.2.MM、MV、VV基因型在生育力正常男性人群中的分布符合哈迪-温伯格平衡定律(χ2=1.7871,P=0.1813,P＞0.05).V470等位基因为生育力正常男性人群中最常见的等位基因,其等位基因频率为0.5852,M470等位基因与V470等位基因在生育能力正常的男性人群中的分布比例约为0.7∶1,相比欧洲白种人(1∶1)偏低.结论:中国CFTR基因M470V多态性改变本身与患者罹患先天性双侧输精管缺如或非梗阻性无精子症无关.M/M、M/V、V/V基因型在中国生育力正常男性人群中的分布符合哈迪-温伯格平衡定律,M470与V470的分布比例约为0.7∶1.%Objectives: To confirm the distribution of M470V polymorphism in normal male and infertile male in order to probe the etiology of infertile Chinese male. Methods:With the patients ' permission, we collected 67 non - obstructive azoospermia patients, 95 congenital bilateral absence of the vas deferens patients and 135 patients whose semen was normal but try in - vitro fertilization out of the infertile female. We did Peripheral blood genomic DNA extraction, applied Cycling probe to de-tect M470V SNP type, used SPSS 13. 0 to analyze statistics and made use of chi - square test. (P <0. 05 was regarded as having significant difference). Results:The distribution frequencies of GFTR gene M470V genotype and its allele had no statistically difference. (P = 0.4221 , 0. 1794 respectively; P > 0. 05 ) MV genotype, being the commonest genotype, constituted 42. 96% in normal male' s genotype; secondarily, the frequency of VV 0. 3704 and MM , the rarest genotype, was only 0.2. The contribution of MV, VV, MM was consistent with Hardy - Weinberg Equilibrium. (χ2 = 1. 7871 ,P =0. 1813 ,P >0. 05) V470 allele was the commonest allele in normal male, whose gene frequency was 0. 5852; the distribution ratio of M470 allele and V470 allele in normal male was 0.7:1, which was lower than that of White European. (1 : 1) Conclusion; The mutation of CFTR M470V polymorphism is not associated with the CBAVD and NOA of male infertility in China. The contribution of MV, VV, MM was consistent with Hardy - Weinberg Equilibrium. The distribution ratio of M470 allele and V470 allele in normal Chinese male was 0.7:1.