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目的:为研究Y染色体上性别决定基因(SRY)在性分化中的作用.方法:对8例性分化异常者进行了染色体核型分析及SRY基因的PCR检测.结果:4例表型女性的46,XY患者SRY阳性;4例表型男性的46,XX患者中3例SRY阴性,1例SRY阳性.结论:强调了SRY基因检测在性分化异常诊断中的重要作用.“,”Objective: To investigate the effect of sex-determining region of the Y chromosome (SRY) on sexual differentiation. Methods: The SRY genes of 8 patients with sexual differentiation were detected by polymerase chain reaction and the chromosome karyotypes were analyzed. Results: The SRY genes were positive in four female cases with 46, XY. The SRY was positive in one out of four male cases with 46, XX male while the rest were negative. Conclusions: Detection of the SRY gene plays an important role in sexual abnormal development diagnosis.