摘要
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。
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 1.20 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.
出处
《中国优生与遗传杂志》
2006年第9期110-112,共3页
Chinese Journal of Birth Health & Heredity
基金
重庆市科委重点项目(NO:20030292)
关键词
男性不育
染色体核型
Y染色体基因微缺失
Male infertility
Chromosome karyotype
Y chromosomem gene microdeletions
