424例男性不育患者染色体及AZF分析结果

Cytogenetics and molecular genetics analysis in 424 patients with male infertility

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 chromosome abnormalities and Azoospermia factor of Y chromosome（AZF）deletion in the Y chromosome of male infertility patients,and provide genetic counseling for the patient′s fertility. Methods：424 male infertile patients were recruited.chromosome karyotypes in peripheral blood were analysed by G-band. AZF were amplified and analysed by multiplex-PCR and agarose gel electrophoresis. Results：Of all the patients,29 cases and 28 cases were positive for abnormal karyotypes（6.84%）and Y chromosome microdeletions（6.60%）,respectively.5 cases were both positive for abnormal karyotypes and Y chromosome microdeletions（1.18%）. The total genetic defect rate was 14.62% in male infertility patients. Conclusion：Chromosomal abnormality and AZF microdeletion is an important cause of azoospermia and severe oligozoospermia.Cytogenetic karyotype analysis and AZF gene deletion in male infertility population will be helpful to guide the healthy growth of this kind of patients.