类DNA甲基转移酶蛋白3田DNMT3L)基因SNP rs207O565多态性与少精症的相关性

摘要

目的:研究类DNA甲基转移酶蛋白3 (DNMT3L)基因rs207O565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.NMT3L基因rs207O565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rs207O565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rs207O565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 of polymorphism of SNP rs2070565 in DNA methyl-transferase 3-like protein (DNMT3L) gene with oligospermia. Methods: The allele and genotype frequencies of rs2070565 locus in DNMT3L gene was investigated in 198 patients with oligospermia group and 249 normal men in normal control group using polymerase chain reaction and fragment length polymorphism analysis (PCR-RFLP). Results: There was a significant difference in allele distribution at rs2070565 locus. The frequency of allele A of s2070565 was significantly higher in oligospermia group than in the control (20.7% vs 14.9%, P=0.03). Conclusion: The polymorphism of SNP rs2070565 in DNMT3L is associated with oligospermia and the allele A of rs2070565 may increase the risk of oligospermia.