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目的探讨人18号染色体α卫星探针的临床诊断价值和产前诊断方法。方法收集产前筛查中染色体异常的高危孕妇(孕16～20周)的羊水间期细胞或染色体标本30例,应用聚合酶链式反应(PCR)法制备的18号染色体α卫星探针与羊水细胞玻片标本进行荧光原位杂交(FISH)检测,同时通过常规细胞培养及染色体核型分析验证其在产前诊断中的特异性和敏感性。结果 G显带染色体核型分析,其中27例为正常的染色体核型,检测出2例18-三体综合征及1例21-三体综合征;经FISH检测的羊水细胞中,其中28例为18号染色体数目正常,检测出2例18-三体综合征,18号染色体数目的诊断与羊水细胞培养结果一致,其准确率为100%;探针与羊水细胞的FISH结果显示,全部标本均获得了明显的杂交信号,通过对30例羊水标本的FISH杂交效率统计,其敏感性为87.5%。结论制备的人18号染色体α着丝粒特异DNA探针能简便、快速、准确的检测羊水细胞间期核中18号染色体的数目的异常,该探针可用于Edwards综合征的诊断。
Objective To investigate the clinical diagnostic value and prenatal diagnosis of human chromosome 18α satellite probe. Methods Thirty cases of amniotic fluid cells or chromosomes from high risk pregnant women (16 to 20 weeks’ gestation) who had chromosomal abnormalities in prenatal screening were collected. The 18 chromosome alpha satellite probes prepared by polymerase chain reaction (PCR) Amniotic fluid cell slide specimens were detected by fluorescence in situ hybridization (FISH), at the same time by conventional cell culture and karyotype analysis to verify its specificity and sensitivity in prenatal diagnosis. Results G-banding karyotype analysis, including 27 cases of normal chromosome karyotype, detected in 2 cases of trisomy 18 and 1 case of trisomy 21; FISH detection of amniotic fluid cells, of which 28 cases The number of chromosome 18 was normal, and 2 cases of 18-trisomy syndrome were detected. The diagnosis of chromosome 18 was consistent with that of amniotic fluid cell culture. The accuracy rate was 100%. FISH results of probe and amniotic fluid cells showed that all the specimens Obtained a significant hybridization signal, 30 cases of amniotic fluid samples by FISH hybridization efficiency statistics, the sensitivity was 87.5%. Conclusions The human chromosome 18-specific α-centromere-specific DNA probe can detect the abnormality of the number of chromosome 18 in amniotic fluid interphase nucleus easily, rapidly and accurately. This probe can be used in the diagnosis of Edwards syndrome.