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目的：为探讨Y染色体上性别决定区基因（SRY）在性分化中的作用。方法：在染色体核型分析的基础上，应用聚合酶链反应（PCR）对4例性分化异常的病人进行SRY检测、结果：2例46，XX男性中1例SRY阳性，1例SRY阴性．2例46，XY女性SRY阳性。结论：SRY基因检测在性分化异常的诊断中有重要意义，但性别决定是一个复杂的过程，不排除还有除SRY以外的遗传机制参与。
Objective: To investigate the role of SRY in sex differentiation in Y chromosome. Methods: On the basis of chromosome karyotype analysis, 4 patients with abnormal differentiation were detected by polymerase chain reaction (PCR). Results: SRY positive and SRY negative were found in 1 case of 46 and XX males in 2 cases. 2 cases 46, XY female SRY positive. CONCLUSIONS: The detection of SRY gene is of great importance in the diagnosis of abnormal sexual differentiation. However, sex determination is a complex process and does not exclude the involvement of genetic mechanisms other than SRY.