摘要
目的探讨不育症患者中无精因子基因家族(AZF)缺失类型分布及其与临床症状的关系。方法采用多重PCR技术对15个序列标记位点(STS)进行检测,判断不育患者的微缺失类型。结果运用序列标记位点在418例不育患者中检出Y染色体微缺失43例,缺失率10.3%,对照组无缺失病例检出。结论大多数AZFa区缺失临床上可表现唯支持细胞综合征,AZFb区域缺失影响精子的发育,AZFc区域缺失表现出临床症状异质性,AZFd缺失临床症状较轻或精子仅表现形态异常。
Objective to study the characteristic distribution of AZF gene microdeletion and to evaluate the relationship between AZF gene microdeletion type and clinical symptom. Methods In order to determine the type of AZF gene microdeletion multiplex - PCR was recruited to detected 15 sequence tagged site in AZF. Results screening 418 blood samples with STS markers specific to AZF regions showed Y chromosome microdeletions in 43 （ 10.3 % ） individuals, No deletion was observed in the control men. Conclusion In the majority of cases involving the AZFa interval, a Sertoli cell -only （SCO） syndrome phenotype is observed , The AZFb patients are involved in spermatogenic arrest, Deletions of AZFc are associated with a wide range of phenotypical, Patients with microdeletions to AZFd may present with mild oligozoospermia or even a normal sperm count associated with abnormal sperm morphology.
出处
《临床和实验医学杂志》
2012年第24期1924-1925,共2页
Journal of Clinical and Experimental Medicine
