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目的通过检测无、少精症不育患者睾丸、精液基因组DAZ基因缺失情况,探讨对其病因的基因诊断方法。方法选择35例特发性无、少精症不育患者作为研究对象,其中少精症18例、严重少精症12例、无精症5例;选择10例正常已生育健康男性作为正常对照组。应用PCR技术,检测睾丸、精液基因组中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例睾丸、精液基因组微缺失,其中无精症3例,严重少精症2例;其余30例患者和10例正常对照组男性的睾丸、精液基因组未见基因微缺失。结论 DAZ基因微缺失是无、少精症的原因之一。
Objective To detect the gene deletion of DAZ gene in the testis and semen of infertile and oligozoospermic patients and to explore the gene diagnosis method of its cause. Methods A total of 35 idiopathic and oligozoospermic infertility patients were selected as research objects, including 18 cases of oligozoospermia, 12 cases of severe oligozoospermia and 5 cases of azoospermia. Ten normal healthy male patients were selected as normal control group. PCR technique was used to detect the amplification of primers of the specific sequence tag site (STS) on the Y chromosome in the testis and semen genome to understand the gene deletion. Results In 35 patients, 5 cases of testes and semen were microdeleted, including 3 cases of azoospermia and 2 cases of severe oligozoospermia. The other 30 cases and 10 cases of normal control group showed no gene microdeletions in the testis and semen genomes. Conclusion DAZ gene microdeletion is one of the causes of oligozoospermia.