摘要
目的：评价产前应用２１号染色体特异性探针荧光原位杂交技术快速诊断胎儿唐氏综合征的可行性。方法：应用２１号染色体区域特异性探针对３０例未经培养的早孕期绒毛细胞进行原位杂交，并同时行常规细胞遗传学分析以对比诊断。结果：正常染色体核型标本中，只有约１％（０％～５％）的间期核呈现３个杂交信号，而在２１，三体型标本中，平均８６％（７８％～９１％）的细胞核呈现３个杂交信号。
Objective: To assess whether fluorescence in situ hybridization (FISH) with chromosome 21, specific DNA probe is applicable as a prenatal diagnostic tool for Down's syndrome. Method: We used FISH with chromosome 21 specific probe on 30 uncultured chorionic villi cell samples to detect the Down's fetus, and we also performed the conventional chromsome analysis of chorion cells from parallel samples. Results: In samples with disomic karyotype, an average of 1 percent (0～5 percent) of the nuclei had three hybridization signals. By contrast, in the samples of trisomy 21 fetus, an average of 86 percent (78～91 percent) of the nuclei displayed three signals. Conclusion: FISH can provide a rapid and accurate method for the first trimester prenatal diagnosis of Down's syndrome.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
1997年第11期646-648,I043,共4页
Chinese Journal of Obstetrics and Gynecology
基金
国家教委回国人员研究基金
关键词
唐氏综合征
产前诊断
胎儿
荧光原位杂交法
Chorionic villi sampling Down syndrome In situ hybridization, fluorescence
