Gribble S M, Kalaitzopoulos D, Burford D C, Prigmore E, Selzer R R, Ng B L, Matthews N S W, Porter K M, Curley R, Lindsay S J, Baptista J, Richmond T A, Carter N P
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
J Med Genet. 2007 Jan;44(1):51-8. doi: 10.1136/jmg.2006.044909. Epub 2006 Sep 13.
To describe a considerably advanced method of array painting, which allows the rapid, ultra-high resolution mapping of translocation breakpoints such that rearrangement junction fragments can be amplified directly and sequenced.
Ultra-high resolution array painting involves the hybridisation of probes generated by the amplification of small numbers of flow-sorted derivative chromosomes to oligonucleotide arrays designed to tile breakpoint regions at extremely high resolution.
How ultra-high resolution array painting of four balanced translocation cases rapidly and efficiently maps breakpoints to a point where junction fragments can be amplified easily and sequenced is demonstrated. With this new development, breakpoints can be mapped using just two array experiments: the first using whole-genome array painting to tiling resolution large insert clone arrays, the second using ultra-high-resolution oligonucleotide arrays targeted to the breakpoint regions. In this way, breakpoints can be mapped and then sequenced in a few weeks.
描述一种相当先进的阵列描绘方法，该方法能够实现易位断点的快速、超高分辨率定位，从而可直接扩增重排连接片段并进行测序。
超高分辨率阵列描绘包括将通过对少量流式分选的衍生染色体进行扩增所产生的探针与经设计以极高分辨率覆盖断点区域的寡核苷酸阵列进行杂交。
展示了如何通过对四个平衡易位病例进行超高分辨率阵列描绘，快速且高效地将断点定位到能够轻松扩增和测序连接片段的程度。有了这一新技术进展，仅通过两次阵列实验即可定位断点：第一次使用全基因组阵列描绘至覆盖大片段插入克隆阵列的分辨率，第二次使用靶向断点区域的超高分辨率寡核苷酸阵列。通过这种方式，可在几周内完成断点定位及测序。
