PRM1基因SNP位点-190C-＞A多态性对精子畸形率的影响

目的:探讨鱼精蛋白基因1(protamine 1,PRM1)单核苷酸多态性(SNP)与畸形精子症的关系。方法:收集畸形精子症不育患者(病例组,n=157)和精子形态正常男性(对照组,n=37)精液样本,进行形态学分析并提取基因组DNA,应用Sequenom MassARRAY SNP分型技术对PRM1基因-190C->A SNP位点(rs2301365)进行基因分型,比较病例组与对照组基因型的分布差异及病例组不同基因型间精子形态参数的差异。结果:病例组中,基因型CC、CA、AA的分布频率及个体数分别为38.9%(61)、44.6%(70)、16.6%(26),对照组为45.9%(17)、51.4%(19)、2.7%(1),病例组AA基因型分布频率显著高于对照组(P<0.05)。病例组等位基因C、A的分布频率分别为57.6%、42.4%,对照组为71.6%、28.4%,病例组等位基因A的频率与对照组差异无显著性(P>0.05)。病例组基因型CC与CA、AA、CA+AA在精子形态学参数的比较,差异无统计学意义(P>0.05)。结论:PRM1基因SNP位点-190C->A可能与中国汉族畸形精子症男性不育存在相关,该位点可能导致精子形态异常,但所致形态异常并无部位上的特异性。

Association of PRM1-190C- > A polymorphism with teratozoospermia

Objective: To investigate the association of single nucleotide polymorphism(SNP) of the Protamine 1(PRM1) gene in infertile men with teratozoospermia.Methods: We collected semen samples from 157 infertile men with teratozoospermia(case group) and 37 age-matched male volunteers(control group),and subjected them to morphological analysis.We extracted genome DNA,genotyped the polymorphism of the PRM1-190C->A SNP(rs2301365) using the Sequenom MassARRAY system,compared the genotype frequencies between the case and control groups,and analyzed the sperm morphological parameters of different genotypes in the infertile males with teratozoospermia.Results: The frequencies of the genotypes CC,CA and AA were 38.9%(61),44.6%(70) and 16.6%(26) in the case group,as compared with 45.9%(17),51.4%(19) and 2.7%(1) in the control,with that of AA significantly higher in the patients than in the volunteers(P < 0.05).The frequencies of the alleles C and A were 57.6% and 42.4% in the former,with no significant differences from 71.6% and 28.4% in the latter(P > 0.05).Nor were any statistically significant differences observed in sperm morphology parameters between the genotype CC and CA,AA and CA+AA in the male patients(P > 0.05).Conclusion: The SNP of PRM1-190C->A might be associated with teratozoospermia-induced male infertility in the Han Chinese.Although this SNP may attribute to abnormal sperm morphology,the targeted part of sperm remains unclear.