GRTH基因c.852C/T多态性与无精症的相关性研究

Association of polymorphism of c.852C/T locus in GRTH with azoospermia

目的:研究GRTH基因c.852C/T位点的多态性与无精症的关系.方法:应用PCR-RFLP技术,在228例无精症患者和259例正常生育男性中,对GRTH基因c.852C/T单核苷酸多态位点的多态分布与无精症的相关性进行研究.结果:无精症患者和正常男性间c.852C/T的等位基因T的频率存在统计学差异(32.2%vs26.2%,P=0.04);在无精症患者中的基因型TT的频率显著高于正常男性(9.6%vs4.6%,P=0.03).结论:GRTH基因c.852C/T的多态分布与无精症相关,基因型TT增加无精症的易感性,可能是人类生精阻碍的一个风险因子.

AIM：To study the relationship between the polymorphism of c.852C/T locus in Gonadotropin-regulated testicular RNA helicase（GRTH）gene and azoospermia.METHODS：The allele and genotype distribution of c.852C/T in GRTH gene were investigated in 228 patients with azoospermia and 259 fertile men as controls by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）analysis.RESULTS：A significant difference was found in the frequency of allele T of c.852C/T locus in GRTH gene between patients with azoospermia and fertile men（32.2% vs 26.2%,P=0.04）.The individuals with genotype TT increased significantly in azoospermic patients compared with those in controls（9.6% vs 4.6%,P=0.03）.CONCLUSION：There is an association between the polymorphism of c.852C/T in GRTH and azoospermia.Genotype TT increases the susceptibility to azoospermia and may be a risk factor of human spermatogenesis impairment.