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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 A, ZF deletion and male azoospermia and oligospermia.Methods Multiplex PCR was used to detect the polymorphism of four STS loci in 95 patients with azoospermia and oligospermia : A ;; ZFa sub-region of sY86, A ;; ZFb sub-region of sY127, A ;; ZFc sub-region of sY254 and sY255 deletion detection. Fifty-three of them were detected by PCR-SSCP method for sY254 point mutation. The expression of DA; Z gene in different tissues of human was also studied. Results A total of 5 cases of azoospermia patients also had the deletion of sY254 and sY255 loci of DA ;; Z gene in A / ZFc subregion. 53 patients had no sY254 a little mutation. DA was only detected in testicular tissue; Z gene expression. Conclusion Some patients with azoospermia may be related to the deletion of A ;; ZFc.