人鱼精蛋白1多态性与汉族男性生育力的相关性分析

Association of PRM1 gene polymorphism with male infertility in Chinese Han population

目的研究人类鱼精蛋白1(PRM1)C321A多态性与汉族男性生育力的相关性。方法选取174例原发不育男性患者为观察组,172例生育男性为对照组,分别分析两组常规精液参数,采用限制性酶切及DNA测序技术对PRM1 C321A位点进行基因分型。结果不育患者PRM1 C321A位点AA基因型频率(8.05%)显著高于生育男性(2.33%)(P<0.01),分析显示AA基因型与男性不育的遗传易感性明显相关[OR=4.24(95%CI:1.33,13.51)]。AA基因型可使精子前向运动能力及正常形态比例等参数明显下降,可能是其导致男性不育的主要因素。结论 PRM1 C321A多态性改变与汉族男性生育力相关。

Objective To determine the association of single nucleotide polymorphism（SNP） locus C321 A in human protamine 1（PRM1） with male infertility in Chinese Han population. Methods A total of 174 infertile men were recruited as the observation group and 172 fertile men were recruited as the control group.Routine semen analysis was performed. Restricted enzyme digestion and DNA direct sequencing of C321 A in PRM1 gene of the infertile and fertile men were conducted to identify the genotype of C321 A SNP locus.Results The frequency of AA genotype of PRM1 C321 A was significantly different between the infertile men（8.05%） and the fertile men（2.33%, P〈0.01） and it was associated with increased risk of male infertility（ OR^= 4.24; 95% CI： 1.33, 13.51）. Moreover, it was discovered that sperm progressive motility as well as normal morphology rate of AA genotype were dramatically decreased compared with that of CC genotype（P〈0.05）, which would probably lead to infertility. Conclusions PRM1 C321 A polymorphism is associated with male infertility as well as routine semen characteristics in Chinese Han population.