雌激素受体α基因rs1062577位点多态性与壮族男性不育的相关性分析

Analysis of correlation between gene polymorphism at rs1062577 locus of ESRα and male infertility in Zhuang nationality

目的探讨桂西地区壮族男性不育与雌激素受体α(estrogen receptorα,ESRα)基因rs1062577位点单核苷酸多态性之间的相关性。方法采用病例-对照研究方法,应用Taq Man SNP基因分型技术对96例21~46岁男性不育患者(试验组)与83例21~46岁正常生育男性(对照组)的ESRα位点进行基因分型,并测序验证,利用SPSS软件统计基因型及等位基因频率在试验组和对照组中的分布特点。结果与野生纯合型比较,杂合型和纯合突变型与男性不育无相关性;将突变型等位基因与野生型等位基因进行比较,同样显示与男性不育无关联(P>0.05);ESRα基因多态性与精子浓度、前向运动精子百分比及正常精子形态百分比无相关性。结论 ESRα基因rs1062577位点单核苷酸多态性与广西壮族男性不育之间不存在相关性。

Objective To investigate correlation between male sterility of Zhuang nationality in western Guangxi and the single nucleotide polymorphisms at the rs1062577 locus of estrogen receptorα(ESRα)in Zhuang nationality.Methods Case-control method was used for the study,and TaqMan probe real-time PCR technique was used to perform genotyping of ESRαloci in 96 infertile men aged 21~46 years(experimental group)and 83 normal healthy men aged 20~46 years(control group),and the method was verified by sequencing.In addition,distribution characteristics of genotype and allele frequency in the experimental group and the control group was counted by SPSS software.Results Compared with wild homozygous genotype,heterozygous genotype and homozygous mutants genotype showed no correlation with male infertility,and it also showed no correlation in the comparison between mutant allele and wild allele(P>0.05).Gene polymorphism of ESRαwas not correlated with sperm concentration,the percentage of forward motile sperm and normal sperm morphology.Conclusion Single nucleotide polymorphisms at the rs1062577 locus of ESRαis not correlated with male infertility in Zhuang nationality.