Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns J-P, Liehr T, Vermeesch J R
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
Cytogenet Genome Res. 2007;116(3):158-66. doi: 10.1159/000098181.
Molecular characterization of breakpoints of chromosomal rearrangements is a successful strategy for the identification of candidate disease genes. Mapping translocation breakpoints and rearranged chromosomal boundaries is labor intensive and/or time consuming. Here, we present a novel and rapid procedure to map such chromosomal breakpoints by hybridizing amplified microdissection derived DNA of aberrant chromosomes to arrays containing genomic clones. We illustrate the potential of the technique by molecularly delineating the breakpoints in five small supernumerary marker chromosomes (sSMC) and mapping the breakpoints of five different chromosomal translocations.
染色体重排断点的分子特征分析是鉴定候选疾病基因的一种成功策略。绘制易位断点和重排染色体边界既费力又耗时。在此,我们提出了一种新颖且快速的方法,通过将异常染色体的扩增显微切割衍生DNA与包含基因组克隆的阵列杂交来绘制此类染色体重排断点。我们通过分子方式描绘五条小的额外标记染色体(sSMC)中的断点并绘制五个不同染色体易位的断点,来说明该技术的潜力。