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目的探讨男性不育症患者染色体异常及Y染色体AZF基因缺失类型的分布,为患者的生育提供遗传咨询。方法运用G显带技术,对患者外周血染色体核型进行分析;运用多重PCR-琼脂糖凝胶电泳技术对424例严重少精子症和无精子症男性不育患者的Y染色体AZF区域微缺失进行分析。结果 424例男性不育症患者中,单纯染色体核型异常为6.84%(29/424),单纯AZF基因微缺失为6.60%(28/424),染色体核型异常合并AZF基因微缺失为1.18%(5/424)。男性不育症患者总遗传缺陷发生率为14.62%(62/424)。结论染色体异常和AZF基因微缺失是引起无精子症和严重少精子症的重要原因,对男性不育症人群进行细胞遗传学核型分析和AZF基因缺失有助于指导该类患者进行健康生育。
Objective To investigate the distribution of chromosomal abnormalities in male infertility patients and the type of AZF deletion in Y chromosome and to provide genetic counseling for the patients’ fertility. Methods G-banding technique was used to analyze the chromosomal karyotypes in peripheral blood of patients. Multiplex PCR-agarose gel electrophoresis was performed on the Y chromosome AZF microdeletions in 424 cases of male infertility with oligozoospermia and azoospermia analysis. Results Among 424 cases of male infertility, the chromosomal abnormality was 6.84% (29/424), the deletion of AZF was 6.60% (28/424), the chromosomal aberration of AZF was 1.18% (5/424). The incidence of total genetic defects in male infertility was 14.62% (62/424). Conclusions Chromosomal abnormalities and AZF gene microdeletion are the important causes of azoospermia and severe oligospermia. Cytogenetic karyotyping and AZF deletion of male infertility may help to guide healthy fertility of these patients.