口腔黏膜脱落细胞结合荧光原位杂交方法辅助排除重型β-地贫异性异基因移植后Turner综合征1例并文献复习  

Exfoliated cells of oral mucosa combined with fluorescence in situ hybridization used in 1 case of Turner syndrome after allogeneic transplantation for severe beta thalassemia

作　　者：黄燕[1] 刘勇[1] 沈妙娜 陈海雷 黄倩雯 阮嘉钰 林晓英 Huang Yan;Liu Yong;Shen Miaona;Chen Hailei;Huang Qianwen;Ruan Jiayu;Lin Xiaoying(Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院,广州510120

出　　处：《国际医药卫生导报》2020年第15期2289-2290,共2页International Medicine and Health Guidance News

摘　　要：目的通过1例重型β-地贫异性异基因移植后生长发育迟缓、无第二性征发育患者的临床报道,介绍利用口腔黏膜脱落细胞结合荧光原位杂交(FISH)技术无创性快速诊断的方法。方法2018年8月在儿科内分泌病区住院的患儿,用无菌棉签取患者两侧口腔黏膜脱落细胞,进行SRY探针荧光原位杂交检测。结果可见两类细胞,小圆细胞为唾液白细胞:可见64%明显SRY基因,信号为1红1绿1蓝。另一细胞为大上皮口腔黏膜脱落细胞:未见明显SRY基因,信号为2蓝。结论口腔黏膜脱落细胞结合荧光原位杂交方法可无创性快速辅助排除Turner综合征。Objective Based on the clinical report of a patient with growth retardation and no secondary sexual characteristics after allogeneic transplantation for severe beta thalassemia,a non-invasive rapid diagnosis method of exfoliated cells of oral mucosa combined with fluorescence in situ hybridization(FISH)was introduced.Method Exfoliated cells of the oral mucosa on both sides of the patient were taken with sterile cotton swabs and detected by SRY probe fluorescence in situ hybridization.Results Two types of cells could be seen,the small round cells were salivary white blood cells:64%of obvious SRY gene could be seen,and the signal was 1 red,1 green,and 1 blue.The other cells were exfoliated cells of the oral mucosa of the large epithelium:no obvious SRY gene was found,and the signal was 2 blue.Conclusion Exfoliated cells of oral mucosa combined with fluorescence in situ hybridization can rapidly and noninvasively assist in the elimination of Turner syndrome.

关 键 词：荧光原位杂交 SRY基因 性染色体病 TURNER综合征 地贫移植 

分 类 号：R596.1[医药卫生—内科学]