【摘要】 目的研究山东地区男性不育症患者和正常男性中的囊性纤维化跨膜转导调节因子(CFTR)基因M470V多态性分布情况,探讨CFTR基因M470V多态性与男性不育的关系。方法收集临床诊断明确的轻度少精子症患者66例,重度少精子症患者59例,无精子症患者51例和生育力正常男性120例。外周血基因组DNA抽提,PCR技术扩增CFTR基因外显子10特定片段,Hph I限制性内切酶酶切方法分析M470V基因型和等位基因分布频率,DNA测序检测M470V SNP类型,应用SPSS17.0进行统计学分析,利用卡方检验,P<0.05视为有显著性差异。结果 4组比较CFTR基因M470V基因型和等位基因分布频率无统计学差异(P值均>0.05)。结论 CFTR基因M470V多态性与少精子症及无精子症无关。更多还原

【Abstract】 Objective To study the distribution of CFTR gene M470 V polymorphisms between the male infertility patients and normal fertile male population in Shandong province, and to explore the relationship between CFTR gene M470 V polymorphisms and male infertility. Methods Collecting definite diagnosed mild oligozoospermia 66 patients; severe oligozoospermia 59 patients; 51 patients with azoospermia and 120 cases of normal fertile male. Peripheral blood genomic DNA extraction, PCR amplified CFTR gene exon 10 specific fragment, Hph I restriction endonuclease digestion method of analysis M470 V genotype and allele frequencies, DNA sequencing to detect M470 V SNP types, and SPSS17.0 statistical analysis was performed using the chi-square test, P <0.05 considered to have significant differences. Results Comparing four groups CFTR gene M470 V genotype and allele frequency there was no significant difference(P >0.05). Conclusion There was no relation between CFTR gene M470 V polymorphisms and oligozoospermia and azoospermia.更多还原