无精子症和少精子症患者中Y染色体相关基因AZF缺失的检测

Research on the AZF deletion in patient with azoospermia and oligospermia.

目的探讨A;;ZF缺失与男性无精子症、少精子症之间的关系,方法采用多重PCR方法,对95例汉族无精子症和少精子症患者的A;;ZF区4个STS位点:A;;ZFa亚区的sY86、A;;ZFb亚区的sY127、A;;ZFc亚区的sY254和sY255进行了缺失检测。用PCR-SSCP方法对其中的53例作了sY254点突变检测。并对DA;;Z基因在人不同组织的表达进行了研究。结果 5例无精子症患者同时具有位于A;;ZFc亚区中DA;;Z基因的sY254和sY255位点缺失。53例患者未见sY254有点突变。只在睾丸组织中检测到DA;;Z基因的表达。结论部分汉族无精子症患者可能与A;;ZFc的缺失有关。

Objective： To investigate the relationship between the deletion of AZF and azoospermia or oligospermia.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 sY255in 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 azoosperima 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.