10例性分化异常患者的SRY基因检测

DETECTION OF SRY GENE IN 10 PATIENTS WITH ABNORMAL SEX-DIFFERENTIATION

目的:研究性分化异常患者的染色体核型和SRY基因在性分化异常中的作用。方法:采用常规G显带方法分析10例性分化异常患者的染色体核型并通过应用PCR技术扩增SRY基因。结果:10例性分化异常患者中,有5例男性患者染色体核型为46,XX,其SRY基因为阴性,2例男性患者染色体核型为46,XX,其SRY基因为阳性,2例女性患者染色体核型为46,XY,其SRY基因为阳性,1例女性患者染色体核型为46,XY/45,X,其SRY基因为阳性。结论:性分化异常患者的染色体核型与其性腺性别不相符,SRY基因是在性分化异常中睾丸分化和发育的关键基因。

Objective：To investigate the chromosome karyotype, the role of SRY gene in abnormal sex-dif- ferentiation patients. Methods： Chromosome karyotypes in 10 cases were analyzed by G-banding analysis, SRY gene was amplified by PCR. Results： Karyotype of 5 males in 10 cases was 46, XX, their SRY gene was negative, karyotype of 2 male patients was 46, XX, their SRY gene was positive, karyotype of 2 fe- male patients was 46, XY, their SRY gene was positive, karyotype of 1 female patient was 46,XY/45,X, the SRY gene was positive. Conclusion： Chromosomal sex of abnormal sex-differentiation patients does not match their gonadal sex. SRY is a key gene in differentiation and development of testicle.