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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。
Objective To investigate the distribution of Cytofibrosis transmembrane conductance regulator (CFTR) gene M470V in male infertility and normal male in Shandong Province, and to explore the relationship between CFTR gene M470V polymorphism and male infertility. Methods Sixty-six patients with mild oligospermia diagnosed clinically, 59 patients with severe oligospermia, 51 patients without azoospermia and 120 normal fertility males were collected. Genomic DNA was extracted from peripheral blood and amplified by PCR. The frequencies of M470V genotypes and alleles were analyzed by Hph I restriction endonuclease digestion. The genotypes of M470V SNPs were detected by DNA sequencing. SPSS17 .0 for statistical analysis, using chi-square test, P <0.05 as a significant difference. Results There was no significant difference in genotype frequency and allele distribution between CFTR gene M470V and control group (all P> 0.05). Conclusion The M470V polymorphism of CFTR gene has no relation with oligospermia and azoospermia.