荧光原位杂交方法检测口腔黏膜脱落细胞在45,X0嵌合体诊断中的意义

Significance of oral mucosa exfoliative cells detected by fluorescence in situ hybridization in diagnosis of 45,X0 mosaicism

目的应用荧光原位杂交(FISH)方法检测45,X0嵌合体患者口腔黏膜脱落细胞,探讨其诊断意义。方法选择3例45,X0嵌合体及可疑嵌合体患者。其中病例1外周血常规染色体核型方法检测,染色体核型为45,X0/46XX,嵌合比为87.0%/13.0%;病例2染色体核型45,X0/46XX,嵌合比为90.0%/10.0%;病例3染色体核型显示单纯45,X0但可疑嵌合体患者。以上患者均采用无菌拭子分别刮取双侧颊黏膜,采集口腔黏膜脱落细胞。应用北京金菩嘉试剂有限公司生产的18/X/Y着丝粒FISH探针进行荧光原位杂交实验。结果口腔黏膜脱落细胞FISH方法检测的3例患者核型分别显示为X0/XX/XXX、X0/XX/XY和X0/XY嵌合体,嵌合比例为77.5%/17.0%/5.5%、61.0%/29.0%/5.0%和88.0%/12.0%;常规外周血淋巴细胞培养后染色体核型分析方法对其中的XXX和XY核型未能准确检出。结论 45,X0患者应用FISH方法检测口腔黏膜脱落细胞,可以无创、快速检出异常核型,对低比例异常嵌合核型可以做出准确诊断。

Objective To detect oral mucosa exfoliative cells of patients with 45,X0 mosaicism by fluorescence in situ hybridization（FISH）,explore the diagnostic significance.Methods Three patients with 45,X0 mosaicism or suspected of mosaicism were selected.Case one was diagnosed as 45,X0/46 XX mosaicism by traditional karyotype analysis method,the mosaic ratio was 87.0%/13.0%.Case two was diagnosed as 45,X0/46 XX mosaicism,the mosaic ratio was 90.0%/10.0%.Case three was diagnosed as simple 45,X0.oral mucosa exfoliative cells of the three cases were collected by sterile swabs,18/X/Y centromere FISH probe was used for FISH.Results FISH results of oral mucosa exfoliative cells showed that the karyotypes of the three cases were X0/XX/XXX mosaicism,X0/XX/XY mosaicism,and X0/XY mosaicism,the mosaic ratios were 77.5%/17.0%/5.5%,61.0%/29.0%/5.0%,and 88.0%/12.0%,respectively.XXX and XY karyotypes were not detected accurately by traditional karyotype analysis method.Conclusion FISH can non-invasively and rapidly detect abnormal karyotypes of oral mucosa exfoliative cells in patients with 45,X0,which can accurately diagnose low proportion of abnormal mosaicism karyotypes.