原发性不育患者染色体核型与AZF基因分析

Karyotype and AZF gene microdeletion analysis in 255 infertile male patients

目的建立针对男性不育症的遗传学筛查的诊断方法。方法采用外周血染色体G显带、PCR技术以及琼脂糖电泳，对255例无精子症和少精子症患者进行外周血染色体核型分析及无精子因子（AZF）基因的6个位点分析。结果255例患者中31例染色体核型异常，占12．16％，在无精子症中染色体异常发生率为17．36％，少精子症和严重少精子症患者染色体异常发生率为7．46％；36例AZF基因有微缺失，占14．12％，其中无精子症缺失率为16．53％，少精子症缺失率为9．68％，严重少精子症缺失率为13．89％。对照组30例已生育男性标本未检查出染色体核型异常和AZF缺失。结论无精子症和少精子症的发生与遗传缺陷密切相关，应对男性不育症被诊断为无精子症或严重少精子症的患者进行遗传学筛查。

Objective To investigate the hereditary causes of male infertile patients with oligospermatism and azoospermatism and establish a screening diagnosis method for male infertility. Methods Peripheral blood samples were obtained from 255 primary infertile patients. Chromosomal G-banding was used for karyotype analysis. PCR was used for analysis of 6 locus of the azoospermia factor （AZF） gene on Y chromosome. Results Of 255 cases, 12.16% （31/255） of patients showed chromosome abnormality. Among it, azoospermic patients with chromosome abnormality accounted for 17.36% and oligospermic patients accounted for 7.46% of; 14.12% （36/255） of patients showed microdeletion in AZF gene, including 16.53% of azoospermatism patients and 11.94% of oligospermatism patients. However, no karyotypic abnormality and microdeletion of AZF gene were found in 30 preprocreated male controls. Conclusion Genetic defect might be associted with ocurrence of azoospermia or severe oligospermia, and cytogenetic analysis and AZF gene microdeletion detection are necessary prior to treatment of male infertility patients.