5例性反转综合征患者SRY、SOX9、DAX1基因检测及病因分析  

Detection of the SRY,SOX9,DAX1 gene and etiological analysis on five sex reversal

作　　者：付姣[1,2] 许邦发 何旺[1,2] 张晨 FU Jiao;XU Bangfa;HE Wang;ZHANG Chen(Hainan General Hospital,Haikou,Hainan 570311,China;Hainan Affiliated Hospital of Hainan Medical University,Haikou,Hainan 570311,China)

机构地区：[1]海南省人民医院,海南海口570311 [2]海南医学院附属海南医院,海南海口570311

出　　处：《中国优生与遗传杂志》2022年第1期56-58,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨5例性反转综合征患者的发病机制。方法对5例性反转综合征患者进行染色体核型分析,SRY、SOX9和DAX1基因检测,SRY阳性患者进行荧光原位杂交(FISH)检测。结果5例性反转综合征患者中,4例为XX男性性反转(核型46,XX3例;45,XX,t(13q14q)1例),1例为46,XY女性性反转。4例XX男性中,3例SRY基因阳性并易位到X染色体短臂,1例SRY阴性、SOX9和DAX1基因无缺失。1例46,XY女性患者,SRY阳性无突变、SOX9和DAX1基因无缺失。结论3例SRY阳性的XX男性性反转的发生是由SRY基因易位于X染色体短臂所致。1例SRY阴性的XX男性性反转和1例SRY阳性的XY女性性反转的发生是否与SOX9和DAX1基因量变有关,需进一步研究。Objective To investigate the five cases of sex reversal syndrome pathogenesis.Methods Five cases of sex reversal syndrome patients with karyotype analysis,SRY,SOX9 and DAX1 gene detection,fluorescence in situ hybridization(FISH)testing.Results Among five cases,four are XX male sex reversal[three with 46,XX,one with 45,XX,t(13 q14 q)]and one is 46,XY female sex reversa1.The positive band of SRY gene was translocated to Xp in the three XX males.No mutation in SRY was found in the 46,XY female.SRY-negative 46,XX male and 46,XY female had positive band in SOX9 and DAX1 genes,but no deletion was found in them.Conclusion The cause of those three with SRY-positive XX male sex reversal is the translocation of SRY gene from Yp to Xp.Dose-effect of SOX9 and DAX1 genes in SRY-negative 46,XX male and 46,XY female need to be further studied.

关 键 词：性反转 SRY基因 SOX9基因 DAX1基因 发病机制 

分 类 号：R596[医药卫生—内科学]