【摘要】 目的对染色体嵌合型的病例运用荧光原位杂交技术(F ISH)进行目标染色体诊断。方法对1例常规G带显色分析后疑似为性染色体嵌合体核型者,采用F ISH技术,应用F ITC、T exas red标记的X/Y染色体着丝粒部位α卫星重复序列探针进行检测,以确定嵌合染色体各型所占比例。结果G带染色核型分析诊断为45,X/47,XXX;G带显色后计数完整分裂相110个,其中45,X和47,XXX分别占78.18%和21.82%;F ISH后进行性染色体核型统计,共计数有杂交信号的细胞和分裂相700个,X和XXX分别占75.86%和24.14%;两种计数结果相比无统计学差异。结论与常规染色体核型分析方法比较,F ISH技术检测嵌合体核型能够观察到更多的分裂相,还可分析核膜完整染色体未分散的间期细胞,计数更多的细胞,为临床提供更准确的数据,且省时。更多还原

【Abstract】 Objective: Using fluorescent in situ hybridization(FISH) to analyze the ratios of different karyotypes in sex chromosome mosaicism.Methods: The chromosome analyzing slides which had been considered to have mosaicism chromosome on it were examined by FISH with X,Y dual color centromere probes,and the ratio of each karyotype were counted.Result: The patient who had a karyotype of 45,X/47,XXX diagnosed by G-band dyeing was carried out FISH procedure on the slides contain cells.In G-band dyeing diagnosis,110 integrity cleavage phases were counted,the ratio of 45,X and 47,XXX was 78.18% and 21.82% respectively.By FISH procedure,total 700 cells or cleavage phases with hybridization signals were counted,the ratios of X and XXX were 75.86% and 24.14% respectively.No significant difference was found between the 2 groups.Conclusion: More cleavage phases can be counted by FISH than G-band dyeing on the diagnosis of mosaicism kyrotype,even many intermediate stage cells can be analyzed by FISH procedure.Time was saved and more precise results can be found.更多还原