用荧光原位杂交技术检测唐氏综合征

目的: 探讨用荧光原位杂交技术在检测唐氏综合征中的应用价值。方法: 以Biotin标记的DSCR21q22.3探针与经处理的20例唐氏综合征患者标本外周血中期染色体及其间期细胞核进行原位杂交,统计杂交信号数量。结果: 14例唐氏综合征患者出现3个杂交信号的细胞,染色体和间期细胞核杂交平均出现率分别为98.79％和98.46％,与染色体检测的结果一致;其余染色体核型检测为嵌合体的6例患者,染色体和间期细胞核中3个杂交信号细胞平均出现率分别为75.33％和7 3.50％, 2个杂交信号细胞平均出现率分别为22.67％和21.33％。结论: 荧光原位杂交技术检测唐氏综合征具有快速、敏感度高、信号强、背景低、直观安全等优点,故FISH技术在临床遗传病检测领域中具有重要的应用价值和发展前景。

Application of Fluorescence In Situ Hybridization in Diagnosis of Down's Syndrome

Objective: To study the application of fluorescence in situ hybridization(FISH) in the diagnosis of Down's syndrome. Methods: Biotin labeled DSCR21q22.3 DNA probes were hybridized with pre-treated peripheral blood metaphases and interphase nuclei in 20 cases of Down's syndrome specimens. The number of hybridization signals in metaphase chromosomes and interphase nuclei of the peripheral blood was counted. Results:The average 3 hybridization signals rate of metaphases and interphase nuclei in 14 Down's syndrome cases was 98.79% and 98.46% respectively, which was confirmed by karyotype 47, XX(XY)+21; there were 6 cases showing mosaic nuclei, and the average 3 hybridization signal rate of metaphases and interphase nuclei was 75.33% and 73.50% respectively and the average 2 hybridization signals rate was 22.67% and 21.33% respectively. Conclusion: FISH is a valuable technique for diagnosing Down's syndrome with the merits of fast, high sensitivity, strong signal, low background, vividness and safety. Therefore, FISH technique can find wide application in the diagnosis of clinical genetic disease.