无精症和严重少精症遗传缺陷筛查研究

目的:探讨无精子症和严重少精子症患者的遗传缺陷与精子生成障碍的关系。方法:采用G显带技术分析外周血染色体核型,并采用聚合酶链式反应对其中染色体核型分析正常的患者进行Y染色体上基因微缺失检测,已正常生育的男子设为对照组。结果:205例无精子症和39例严重少精子症患者中发现染色体核型异常74例,异常核型发生率为30.33%,正常对照组只发现1例异常核型,占3.33%;其中染色体核型正常的无精子症和严重少精子症患者发现Y染色体上基因微缺失3例,缺失率为8.33%,正常对照组无1例Y染色体基因微缺失。结论:染色体核型异常和Y染色体微缺失均为引起无精子症和严重少精子症的重要原因。同时采用这两种遗传学筛查方法可以更全面地评价无精子症和严重少精子症患者的遗传缺陷状况,更好地为患者提供病因诊断、遗传咨询和治疗方案的选择。

Screening to genetic defects of the patients with azoospermia and severe oligospermia

Objective:To investigate the relationship between genetic defects and dysgenesis of sperm of patients with azoospermia or severe oligospermia.Methods:G banding techniques were used to conduct the routine karyotype analysis of peripheral blood chromosome,and polymerase chain reaction(PCR) was used to detect Y-chromosome microdeletion of 36 cases of azoospermia with normal karyotype.Results:The rate of abnormal chromosome karyotype was 30.33%(74 cases) in cases with azoospermia and severe oligospermia and 3.33%(1 case)in control group,respectively.3 cases of Y-chromosome microdeletion in different segments of Azoospermia Factors(AZF) region on Y-chromosome were found in 36 cases of azoospermia with normal karyotype and the microdeletion rate was 8.33%.No microdeletion in corresponding sites was discovered in normal men who had had a child.Conclusion:Both abnormal chromosome karyotype and Y-chromosome microdeletion play important roles in azoospermia and severe oligospermia.It is more accurate and comprehensive in evaluating the genetic defects of patients with azoospermia or severe oligospermia by screening peripheral blood chromosome karyotype with Y-chromosome microdeletion,which can offer the patients with etiologic diagnosis,genetic counseling and choices for therapeutic strategies.