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目的:从染色体核型、Y染色体微缺失状况及性激素水平等方面分析石家庄地区精子发生障碍患者发病原因。方法:273例精子发生障碍患者临床表现为无精子症或严重少、弱精子症。取外周血进行染色体核型分析及性激素测定;同时,提取全血DNA,应用多重PCR反应技术,采用无精子因子区16个序列标签位点对所有患者进行Y染色体微缺失分析。结果:273例精子发生障碍患者中,检测出染色体核型异常者35例,异常率为12.82%。Y染色体存在微缺失患者24例,异常率为8.79%。另外,染色体与Y染色体微缺失同时异常的9例,占总样本3.3%,并且发现Y染色体微缺失与激素水平有很大相关性。结论:对于精子发生障碍患者的诊断和人工辅助生殖治疗,染色体核型分析和Y染色体微缺失的应该作为常规检查,激素水平可作为辅助检查。
Objective: To analyze the pathogenesis of spermatogenic disorders in Shijiazhuang from the aspects of karyotype, Y chromosome microdeletions and sex hormone levels. Methods: The clinical manifestations of 273 cases of sperm disorders were azoospermia or severe oligozoospermia. Chromosome karyotype analysis and sex hormone determination were taken from the peripheral blood. Meanwhile, whole blood DNA was extracted. All patients were analyzed with Y chromosome microdeletion analysis using multiplex PCR reaction and 16 sequence tagging sites without azoospermia. Results: Of the 273 cases of spermatogenic disorders, 35 cases were detected with karyotype abnormalities, the abnormal rate was 12.82%. There were 24 patients with microdeletion of Y chromosome, the abnormal rate was 8.79%. In addition, chromosomes and Y chromosome microdeletion at the same time abnormalities in 9 cases, accounting for 3.3% of the total sample, and found that Y chromosome microdeletion and hormone levels have a great correlation. CONCLUSION: Chromosomal karyotyping and Y chromosome microdeletions should be routine tests for the diagnosis and artificial assisted reproductive therapy in patients with spermatogenic disorders. Hormone levels may be used as a supplementary test.