Brandt C A, Lyngbye T, Pedersen S, Bolund L, Friedrich U
Institute of Human Genetics, University of Aarhus, Denmark.
J Med Genet. 1994 Mar;31(3):234-7. doi: 10.1136/jmg.31.3.234.
We currently use direct and reverse chromosome painting in prenatal diagnosis. In a family with a subtle 12;16 translocation, adjacent 1 segregation was diagnosed in the first child, a boy, in whom symptoms compatible with partial trisomy 16p and partial monosomy 12q were seen. In the next pregnancy, a chorionic villus biopsy was tested using chromosome painting. Only by supplementing conventional cytogenetic methods with molecular cytogenetic techniques could the true karyotype be unequivocally determined. Reverse painting, using DOP-PCR amplified, flow sorted paternal derivative chromosomes as a DNA library to paint the chorionic villus cells, was especially informative.
我们目前在产前诊断中使用直接和反向染色体涂染技术。在一个存在12号与16号染色体细微易位的家庭中，其第一个孩子是一名男孩，被诊断为邻位1分离，该男孩出现了与16号染色体短臂部分三体和12号染色体长臂部分单体相符的症状。在接下来的妊娠中，对绒毛膜绒毛活检样本进行了染色体涂染检测。只有将传统细胞遗传学方法与分子细胞遗传学技术相结合，才能明确确定真实的核型。使用经DOP-PCR扩增、流式分选的父源衍生染色体作为DNA文库来涂染绒毛膜绒毛细胞的反向涂染技术，信息量尤为丰富。
