ODF1基因多态性与四川地区特发性弱精子症的相关性研究

Association between ODF1 gene polymorphism and idiopathic asthenozoospermia in Sichuan

摘要:

本研究探讨四川地区外周致密纤维1（outer dense fiber1, ODF1）基因多态性与男性特发性弱精子症的相关性.选取106例特发性弱精子症男性不育患者为病例组和104例精液参数正常的男性为对照组，分析ODF1基因多态性在各组中分布的差异.结果表明：与对照组相比，ODF1基因中27- bp缺失变异体（c.656delACCCCTGCAGCCCCTGCAACCCGTGCA）的频率在特发性弱精子症男性不育组中显著升高（OR=1.783，95%CI=1.178~2.700，P=0.006），并利用MEGA比对分析后发现有10个氨基酸缺失（C218-P229delinsNPCSPCNPCS）.通过PROVEAN与PMP软件分析，27- bp缺失变异体对蛋白质功能有潜在损害.因此四川地区ODF1基因中27 -bp缺失变异体极有可能与弱精子症男性不育相关.

Abstract:

The purpose of this research was to study the association between polymorphisms of the ODF1 gene and idiopathic asthenozoospermia in Sichuan. We analyzed the distribution of the ODF1 gene polymorphism in 106 idiopathic asthenozoospermia and 104 fertile men with normospermic parameters. The result shows that the 27-bp deletion (c.656delACCCCTGCAGCCCCTGCAACCCGTGCA) was increased significantly in idiopathic asthenozoospermic patients compared with fertile counterparts (OR=1.783，95%CI=1.178~2.700，P=0.006) and ten amino acids (C218-P229delins NPCSPCNPCS) deletion were discovered by MEGA. Moreover, PROVEAN and PMP analysis predicted that this deletion mutation potentially damage to the function of protein. Therefore, these results suggested that the 27-bp deletion variant in ODF1 was highly likely to be one of the genetic factors for idiopathic asthenozoospermia among males in Sichuan.