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目的应用自制的双色探针对人21号和18号染色体的数目进行快速产前诊断。方法将显微分离的人21号和18号染色体DNA分别进行扩增并标记制备成杂交探针;将两种涂染探针混合后分别与18-三体标本、21-三体标本和正常的染色体核型标本进行荧光原位杂交(Fluorescence in situ hybridization,FISH),并将其检测结果与传统染色体核型分析方法进行对比。结果 FISH分析诊断结果与常规核型分析一致,准确率为100%,且21号染色体和18号染色体的检出率分别为86.6%和87.4%。结论制备的人21号与18号全染色体DNA涂染探针能用于21号和18号染色体的数目的快速产前诊断。
Objective To make rapid prenatal diagnosis of the number of human chromosome 21 and chromosome 18 using a homemade two-color probe. Methods Microscopically separated human chromosome 21 and chromosome 18 DNA were amplified and labeled to prepare a hybridization probe. The two hybridization probes were mixed with 18-trisomy, 21-trisomy and normal (Fluorescence in situ hybridization, Fluorescence in situ hybridization, FISH), and the test results and conventional karyotype analysis methods were compared. Results The diagnostic results of FISH were consistent with those of conventional karyotype analysis. The accuracy of FISH analysis was 100%. The detection rates of chromosome 21 and chromosome 18 were 86.6% and 87.4% respectively. Conclusion The prepared human chromosome 21 and chromosome 18 DNA staining probes can be used for the rapid prenatal diagnosis of the numbers of chromosomes 21 and 18.