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% us 26.2%,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% us 4.6%,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.
Association of polymorphism of c. 852C/T locus in GRTH with azoospermia
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.
NETL
NSTL
万方数据
维普
