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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。
Objective To detect the gene deletion of HSFY gene in testis and semen of infertile and oligozoospermic infertility patients and to explore the gene diagnosis method of its etiology. Methods A total of 35 idiopathic and oligozoospermic patients were selected as research objects. Among them, 18 were oligozoospermia, 12 were asymptomatic oligospermia and 5 were azoospermia. Ten normal healthy male subjects were selected as normal controls. PCR technique was used to detect the gene deletion in the Y chromosome specific sequence tagging site (STS) in the testis and semen of each patient. Results Among the 35 patients, 5 showed spermatozoon microdeletions in the testis and spermatozoa, including 2 oligozoospermia and 3 severe oligospermia. The remaining 30 patients and 10 normal control testes showed no gene microgene in the sperm genome Missing. Conclusion The partial deletion of heat shock transcription factor gene in AZFb region will significantly reduce the number of sperm.