50例性分化发育不良患者的SRY基因分析

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

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 5 0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 4 6 ,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 4 6 ,XX女性SRY(+) ,1例 4 6 ,XX男性SRY(- ) ,1例 4 6 ,XX/ 4 6 ,XY女性和 1例核型为 4 7,XXY男性SRY(+) ,在 4 6 ,XY患者中女性 11例 ,男性 6例SRY(+)。 (2 ) 1例 4 6 ,XX女性SRY基因存在点突变 ,1例 4 6 ,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。

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.