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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 the exfoliated cells of oral mucosa in 45 and X0 chimera patients by fluorescence in situ hybridization (FISH), and to explore its diagnostic significance. Methods Three cases of 45, X0 chimera and suspicious chimera were selected. Chromosome karyotype was 45, X0 / 46XX, chimerism was 87.0% / 13.0%. Case 2 karyotype 45, X0 / 46XX, chimerism was 90.0% 10.0%; case 3 karyotype showed a simple 45, X0 but suspicious chimera patients. More patients with sterile swab were scalded buccal mucosa, oral mucosal exfoliative cells. Fluorescence in situ hybridization was performed using 18 / X / Y centromere FISH probe produced by Beijing Gold Buddha Reagent Co., Ltd. Results The karyotypes of three patients detected by FISH were 77.5% / 17.0% / 5.5% and 61.0%, respectively. The karyotypes of XO / XX / XXX, X0 / /29.0%/5.0% and 88.0% / 12.0%, respectively. Chromosomal karyotypic analysis of conventional peripheral blood lymphocytes failed to detect the XXX and XY karyotypes. Conclusion 45, X0 patients using FISH method detection of oral mucosal exfoliated cells, noninvasive, rapid detection of abnormal karyotype, low proportion of abnormal chimeric karyotype can make an accurate diagnosis.