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

作　　者：刘波[1] 覃锦耀[1] 李山[1] 

机构地区：[1]广西医科大学第一附属医院检验科,南宁530021

出　　处：《广西医科大学学报》2013年第5期698-700,共3页Journal of Guangxi Medical University

基　　金：广西壮族自治区卫生厅医疗卫生科研基金项目(No.Z2003025)

摘　　要：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.

关 键 词：性分化异常 染色体 SRY基因 PCR 

分 类 号：Q987.1[生物学—遗传学] R394.2[生物学—人类学]