【摘要】 目的评估某些Y染色体单倍型是否为导致男性不育的Y染色体微缺失的易感或保护因素,以确定并比较Y染色体上9个STR基因座基因频率在不育患者和有生育力正常人群中的分布。方法应用STR复合扩增、基因扫描、基因分型方法检测69例特发性不育男性患者及66例生育力正常男性Y染色体上9个STR基因座基因频率,并比较Y染色体微缺失及无缺失不育男性之间这些基因频率的差异。结果不育组与对照组相比,DYS393和DYS392基因座频率分布差异较大,特发性无精子症和严重少精子症不育人群的DYS393的等位基因13的基因频率明显高于正常生育力人群,Pc<0.05,DYS393的等位基因15和DYS392的等位基因10在特发性无精子症和严重少精子症不育人群中的分布明显低于正常生育力人群,Pc<0.05。携带Yq缺失与不携带Yq缺失不育男性之间9个STR基因座基因频率分布比较发现DYS439和DYS392基因座基因频率差异较大,DYS439等位基因10和DYS392等位基因15在Y染色体微缺失和无Y染色体微缺失的不育男性之间的分布差异具有统计学意义,Pc<0.05。结论携带DYS393等位基因13和不携带DYS393等位基因15和DYS392等位基因10的男性可能具有发生不育的倾向,而携带DYS439的等位基因10以及不携带DYS392的等位基因15的不育男性可能更易于发生Y染色体微缺失,提示男性的生育力及Y染色体微缺失可能受Y染色体特殊的遗传背景的影响。更多还原

【Abstract】 Objective To analyze the genotype frequencies of 10 Y chromosome STR loci between infertile men and normal people and assess the relationship between some Y chromosome haplogroups and Y chromosome deletion leading to male infertility. Methods The allelic frequencies of Y chromosome STR loci of the two groups were detected by coamplification and genescan and genetype analysis. Results The frequenece of alleles 11 and 15 of DYS393, alleles 21 of DYS390, alleles 12 of DYS19, alleles 32 of DYS398 Ⅱ, alleles 11 of DYS389, alleles 10 of DYS392, alleles 8 of DYS438, alleles 10 and 14 of DYS439 were remarkably different between the two groups. Conclusion These results suggested that the genotype frequencies of 10 Y chromosome STR loci might be risk factors for male infertility. Y chromosome deletion may be affected by Y chromosome genetic background.更多还原