性反转综合征患者SRY、SOX9基因检测

目的探讨性反转综合征发生与性别分化相关基因SRY、SOX9之间的关系。方法分析了4例XX男性性反转及1例XY女性性反转患者临床表现、染色体核型，并采用聚合酶链反应（PCR）对SRY、SOX9基因进行了检测。结果5例性反转中，3例XX男性性反转及1例XY女性性反转患者SRY阳性，1例XX男性性反转患者SRY阴性。5例患者均检测到SOX9基因。结论SRY易位是导致性反转发生的重要原因之一，某些性反转的发生可能与SOX9基因异常有关，SOX9的计量效应关系有待研究。

Detection of SRY and SOX9 gene on the patients with sex reversal

Objective： To investigate the relationship between sex reversal and SRY, SOX9 gene. Methods： Cytogenetic analysis and polymerase chain reaction （PCR） of SRY and SOX9 were performed on the four patients with XX male sex reversal and one with XY female sex reserval, Results ： Among the five cases , the positive band of SRY was detected in the three patients with XX male sex reversal and one with XY female sex reversal. The detection of SRY was negative in the other patient with XX male sex reversal, All the five cases have positive band of SOX9, Conclusion ： The translocation of SRY gene is one of the important reasons of sex reversal, The abnormality of SOX9 might result in some kinds of sex reversal and its dose - effect need to be studied.