人类SRY基因在性分化异常患者中的表达及意义

HUMAN SRY GENE EXPRESSION AND CLINICAL SIGNIFICANCE IN THE PATIENTS WITH SEXUAL DIFFERENTIATION

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.