Y染色体上热休克转录因子在无、少精子症患者精液、睾丸中的缺失研究

目的 通过检测无、少精子症不育患者睾丸、精液基因组HSFY基因缺失情况,探讨其病因的基因诊断方法.方法 选择35例特发性无、少精子症患者作为研究对象,其中少精子症18例、严重少精子症12例、无精子症5例;10例正常已生育健康男性作为正常对照.应用PCR技术,检测每例患者睾丸、精液中精子基因组中的Y染色体上特异性序列标签位点(STS)的引物扩增了解基因缺失情况.结果 35例患者中5例表现睾丸、精液中精子基因组微缺失,其中少精子症2例,严重少精子症3例;其余30例患者和10例正常对照睾丸、精液中精子基因组未见基因微缺失.结论 AZFb区热休克转录因子基因的部分缺失将会使精子数量明显减少.

Study on deletion of HSFY on Y chromosome gene in testis and semen of infertile males with azoospermia and oligozoospermia

Objective To identify the microdeletion of gene HSFY in testis and semen of infertile men with azoospermia and oligozoospermia,and develop a gene screening method for the diagnosis of male infertility.Methods Thirty-five patients with idiopathic azoospermia and oligozoospermia were recruited in the study including 18 azoospermia patients,12 severe oligozoospermia patients and 5 oligozoospermia patients.Ten normal fertile males were used as controls. Y-chromosome specific STSs in semen and testis was detecte...