Ultra-high resolution array painting facilitates breakpoint sequencing

J Med Genet. 2007 Jan;44(1):51-8. doi: 10.1136/jmg.2006.044909. Epub 2006 Sep 13.

Abstract

Objective: 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.

Method: 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.

Results and discussion: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Breakage*
  • Chromosome Mapping / methods*
  • Chromosome Painting / methods*
  • Chromosomes, Human / genetics
  • Flow Cytometry
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis / methods*
  • Translocation, Genetic*