120例精子发生障碍的遗传缺陷研究

目的探讨无精子症,严重少精子症和少、弱精子症患者的遗传缺陷与男性不育的关系。方法采用外周血染色体核型分析技术和Y染色体基因微缺失检测方法,对120例无精子症,严重少精子症和少弱精子的患者进行了遗传咨询。结果在被筛查患者中发现异常染色体核型13例,异常核型发生率为10.83%;而其Y染色体微缺失检测中存在AZFc/SPGY基因缺失31例,缺失率25.83%。结论染色体核型异常和Y染色体微缺失与精子生成障碍有直接逻辑关系。Y染色体AZFc/SPGY区域的微缺失是中国男性不育的重要原因,因此,中国男性不育症患者有必要进行Y染色体AZFc/SPGY微缺失的常规筛查。

120 cases of research on genetic defects of the sermatogenesis failure

Objective:To inveqtigate the relationship between male infertility and genetic defects of patients with azoosprmia or severe oligospermia. Methods:chromosome karyotype analysis and Y-chromosome microdeletion screening from 120 cases with azoospermia or severe oligospermia were performed ,to take genetic counseling and find the rule. Results:The incidence of abnormal chromosome karyotype was 10.83%(13 cases).While 31 cases with microdeletion in different segments of Azoospermia or severe oligospermia Factore (SPGY) region on Y-chormosome were gound in 120 cases,and the microdeleion rate was 25.83%. Conclusion:Both of abnormal chromosome karyotype and Y-chorosome microdeletion were important to cause azoospermia and severe oligospermia. (SPGY) region on Y-chormosome microdeletion was an important case in male infertility .So,we must take (SPGY) region on Y-chormosome microdeletion screening as a nomal multiplex.