无精症、少精症患者中AZF缺失的检测  

Research on the AZF Deletion in Patient with Azoospermia and Oligospermia

作　　者：张咸宁 胡志红[2] 曹凤根[2] 左伋[2] 

机构地区：[1]宁波大学医学院遗传学室,宁波315211 [2]复旦大学上海医学院细胞与遗传系,上海200032

出　　处：《生殖与避孕》2002年第6期342-345,T004,共5页Reproduction and Contraception

基　　金：宁波市农业与社会发展计划项目(编号:01N40108-2)

摘　　要：目的:探讨AZF缺失与男性无精症、少精症之间的关系。方法:采用多重PCR方法,对84例汉族无精症和少精症患者的AZF区4个STS位点:AZFa亚区的sY86、AZFb亚区的sY127、AZFc亚区的sY254和sY255进行了缺失检测。用PCR-SSCP方法对其中的48例作了sY254点突变检测。并对DAZ基因在人不同组织的表达进行了研究。结果:3例无精症患者同时具有位于AZFc亚区中DAZ基因的sY254和sY255位点缺失。48例患者未见sY254有点突变。只在睾丸组织中检测到DAZ基因的表达。结论:部分汉族无精症患者可能与AZFc的缺失有关。Objective:To investigate the relationship between the deletion of AZF and azoospermia or oligosper-mia. Methods :Multiplex PCR were use to detect the deletions of 4 STSs located in the AZF region, namely sY86 in AZFa, sY127 in AZFb, sY254 and sY255 in AZFc,. PCR-SSCP was used to check the sY254 point mutations among eighty-four Han Chinese patients with azoospermia or oligospermia. The expression pattern of DAZ gene in different tissues was studied using RT-PCR method. Results:The concurrent deletions of sY254 and sY255 in AZFc subregion were found in three azoospermia patient. The sY254 point mutations were not found in the 48 patients who were studied,the other 36 patients were not studed. DAZ gene only expressed in the testis tissue. Conclusion: The deletions of AZFc may be associated with some Han Chinese azoospermia.

关 键 词：无精症因子 AZF 无精症缺失 DAZ 缺失 无精症 少精症 

分 类 号：R698.2[医药卫生—泌尿科学]