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目的:探讨严重少精子症和无精子症其遗传效应及其对生殖的影响,为男性不育治疗及辅助生殖技术的临床开展提供理论参考。方法:采用外周血染色体G显带、C显带技术和多重聚合酶链反应技术,及琼脂糖凝胶电泳等方法,对40例男性不育患者进行了染色体分析及AZF基因的8个位点进行分析。结果:40例不育患者发现6例染色体异常,16例AZF基因有微缺失;1例临床诊断Kallman’s综合征。结论:严重少精子症和无精子症与遗传密切相关,对男性不育患者进行细胞遗传学及Y染色体AZF区域微缺失检查是必要的。
Objective: To investigate the genetic effects of severe oligozoospermia and azoospermia and their effects on reproduction, and provide theoretical references for the clinical development of male infertility treatment and assisted reproductive technology. Methods: Chromosomal analysis of 40 male infertility patients and 8 loci of AZF gene were performed by G-banding of peripheral blood, C-banding technique, multiplex polymerase chain reaction and agarose gel electrophoresis. Analyze. Results: Six cases of chromosomal abnormalities were found in 40 infertile patients, microdeletions were found in 16 cases of AZF gene and 1 case was diagnosed as Kallman’s syndrome. Conclusions: Severe oligospermia and azoospermia are closely related to inheritance. Cytogenetics and microdeletion of Y chromosome AZF are necessary for male infertility.