Davies A F, Barber L, Murer-Orlando M, Bobrow M, Adinolfi M
Division of Medical & Molecular Genetics, UMDS of Guy's Hospital, London, UK.
J Med Genet. 1994 Sep;31(9):679-85. doi: 10.1136/jmg.31.9.679.
Techniques have been reported in which fluorescence in situ hybridisation (FISH) and cosmid probes are used to detect trisomy 21 (and other abnormalities involving chromosomes X, Y, 13, and 18) on uncultured amniocytes. However the detection rate of trisomy 21 is lower than for the other anomalies owing to a larger number of uninformative results and false negatives. We report the simultaneous use of two differentially labelled cosmid contigs to improve the detection rate of trisomy 21 on uncultured amniocyte samples thus allowing the prenatal diagnosis of Down's syndrome even if only few labelled nuclei are available.
已有报道称，采用荧光原位杂交（FISH）技术和黏粒探针检测未培养羊膜细胞中的21三体（以及涉及X、Y、13和18号染色体的其他异常）。然而，由于未提供信息的结果和假阴性数量较多，21三体的检测率低于其他异常情况。我们报告了同时使用两个差异标记的黏粒重叠群，以提高未培养羊膜细胞样本中21三体的检测率，从而即使只有少数标记核可用，也能进行唐氏综合征的产前诊断。
