Ultra-high resolution array painting facilitates breakpoint sequencing
Open Access
- 6 July 2006
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 44 (1) , 51-58
- https://doi.org/10.1136/jmg.2006.044909
Abstract
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.Keywords
This publication has 42 references indexed in Scilit:
- Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGHGenes, Chromosomes and Cancer, 2005
- Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotypeEuropean Journal of Medical Genetics, 2005
- Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic DysplasiaAmerican Journal of Human Genetics, 2005
- The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypesJournal of Medical Genetics, 2005
- Maskless fabrication of light-directed oligonucleotide microarrays using a digital micromirror arrayNature Biotechnology, 1999
- BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequencesFEMS Microbiology Letters, 1999
- High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarraysNature Genetics, 1998
- Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.Human Molecular Genetics, 1997
- Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy.1995
- Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate geneNature Genetics, 1995