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目的本研究主要通过分析非梗阻性无精子症患者染色体核型分析结果和Y染色体微缺失特征探讨遗传学检查在非梗阻性无精子症男性不育中的辅助诊断及治疗方法的选择指导作用。方法选择272例非梗阻性无精子症患者,采集外周静脉血进行染色体核型分析及Y染色体微缺失检测,评估非梗阻性无精子症患者染色体核型异常以及Y染色体微缺失的检出率及特征。结果 272例非梗阻性无精子症患者染色体核型分析正常者占69.85%,异常者占30.15%,其中,常染色体异常者占5.52%,性染色体异常者24.63%;Y染色体微缺失占7.35%,在染色体核型正常患者中Y染色体微缺失占10.53%。结论开展外周血染色体核型分析和AZF检测,可评价男性不育遗传缺陷,从而更好的解释非梗阻性无精子症发病原因,提供遗传咨询和指导临床诊疗。
Objective To investigate the role of genetic tests in the diagnosis and treatment of non-obstructive azoospermia in male infertility by analyzing the results of karyotype analysis and Y chromosome microdeletions in patients with non-obstructive azoospermia. Methods A total of 272 non-obstructive azoospermia patients were selected. Peripheral venous blood was collected for karyotype analysis and Y chromosome microdeletion. The detection rate of chromosomal karyotype and Y chromosome microdeletion in non-obstructive azoospermia patients were evaluated. feature. Results 272 cases of non-obstructive azoospermia patients with normal karyotype analysis accounted for 69.85%, abnormalities accounted for 30.15%, of which, autosomal abnormalities accounted for 5.52%, 24.63% of sex chromosome abnormalities; Y chromosome microdeletions accounted for 7.35% , In the normal chromosome karyotype patients accounted for 10.53% of Y chromosome microdeletions. Conclusion Peripheral blood karyotype analysis and AZF test can evaluate the male infertility genetic defects, so as to better explain the causes of non-obstructive azoospermia and provide genetic counseling and clinical diagnosis and treatment.