Ultra-high resolution array painting facilitates breakpoint sequencing - PubMed (original) (raw)

Case Reports

doi: 10.1136/jmg.2006.044909. Epub 2006 Sep 13.

D Kalaitzopoulos, D C Burford, E Prigmore, R R Selzer, B L Ng, N S W Matthews, K M Porter, R Curley, S J Lindsay, J Baptista, T A Richmond, N P Carter

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Case Reports

Ultra-high resolution array painting facilitates breakpoint sequencing

S M Gribble et al. J Med Genet. 2007 Jan.

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.

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Conflict of interest statement

Competing interests: None declared.

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References

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