50例性分化发育不良患者的SRY基因分析

目的探讨性分化发育不良患者SRY基因的作用及其临床意义.方法选择在我院遗传室咨询的性分化发育不良患者50例,在染色体核型分析的基础上,应用聚合酶链(PCR)技术对每例患者检测SRY基因,应用DNA序列分析技术对6例性染色体XX或XY而SRY( )的女性患者和2例染色体为46,XY、SRY( )睾丸发育不良的男性患者,进行了SRY基因序列分析.结果 (1)1例46,XX女性SRY( ),1例46,XX男性SRY(-),1例46,XX/46,XY女性和1例核型为47,XXY男性SRY( ),在46,XY患者中女性11例,男性6例SRY( ).(2)1例46,XX女性SRY基因存在点突变,1例46,XY女性患者SRY基因序列存在点突变和移码突变.结论对性分化发育不良患者进行SRY检测及其基因分析,不仅有利于为该类患者寻找病因,而且有利于指导治疗.

Analysis of SRY gene in 50 cases of sexual abnormal differentiation and development

Objective: In oder to assess the role of SRY gene in sexdetermination and development. Methods: Using the karyotype analysis ,PCR amplification and DNA sequencing techniques .We have analysed the SRYgene in the patients with sexual abnormal defferentiation and development. Results:(1)There was one XX female and one XX/XY female ,they had SRY. gene respectively .Eleven XY female showed a positive SRY.In six XY man and one XXY man,SRY was positive. One XX man hadn't SRYgene. (2)one case XX famale with SRY gene had a point mutation.One XY female had frmeshift mutation and point mutation.Conclusion:The analysis of SRY gene not only benefit studing the mechanism of sexual abnormality ,but also have directive meaning for the treatment.