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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 study the role of sex determining genes (SRY) in sex chromosomes on chromosome Y. Methods: Chromosome karyotype analysis and PCR detection of SRY gene were performed in 8 patients with abnormal differentiation. RESULTS: SRY was positive in 46 patients with XY and 4 patients with XY phenotype. Three of 46 patients with XX and 4 patients with phenotype were SRY-negative and 1 patient with SRY-positive. CONCLUSIONS: The important role of SRY gene testing in the diagnosis of sexual differentiation abnormalities has been highlighted.