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目的:研究类DNA甲基转移酶蛋白3(DNMT3L)基因rs2070565多态性与少精症的相关性。方法:应用PCR-RFLP分析方法,在198名少精症患者(少精症组)和249名正常的男性个体(正常对照组)中,对DNMT3L基因rs2070565位点的基因频率和基因型频率分布进行调查。结果:在少精症和正常男性中rs2070565位点的等位基因频率分布存在差异,少精症组中等位基因A的频率显著高于正常对照组(20.7%vs 14.9%,P=0.03)。结论:DNMT3L基因rs2070565位点的多态性与少精症相关,等位基因A可能增加少精症的易感性。
Objective: To study the association between rs2070565 polymorphism of DNA methyltransferase 3 (DNMT3L) gene and oligospermia. Methods: PCR-RFLP was used to analyze the frequency and genotype frequency of rs2070565 in DNMT3L gene in 198 oligozoospermia patients and 249 normal male subjects (normal control group) Investigate. Results: There was a difference in allele frequency distribution between rs2070565 locus in oligospermia and normal men. The frequency of allele A in oligospermia group was significantly higher than that in normal control group (20.7% vs 14.9%, P = 0.03). Conclusion: Polymorphism of rs2070565 in DNMT3L gene is associated with oligozoospermia and allele A may increase the susceptibility to oligozoospermia.