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Mapping translocation breakpoints by next-generation sequencing.
- Source :
-
Genome Research . Jul2008, Vol. 18 Issue 7, p14-14. 1p. - Publication Year :
- 2008
-
Abstract
- Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterization of breakpoints in disease-associated BCRs has been instrumental in the molecular elucidation of a wide variety of genetic disorders. However, mapping chromosome breakpoints using traditional methods, such as in situ hybridization with fluorescent dye-labeled bacterial artificial chromosome clones (BAC-FISH), is rather laborious and time-consuming. In addition, the resolution of BAC-FISH is often insufficient to unequivocally identify the disrupted gene. To overcome these limitations, we have performed shotgun sequencing of flow-sorted derivative chromosomes using "next-generation" (Illumina/Solexa) multiplex sequencing-by-synthesis technology. As shown here for three different disease-associated BCRs, the coverage attained by this platform is sufficient to bridge the breakpoints by PCR amplification, and this procedure allows the determination of their exact nucleotide positions within a few weeks. Its implementation will greatly facilitate large-scale breakpoint mapping and gene finding in patients with disease-associated balanced translocations. [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENE mapping
*NUCLEOTIDE sequence
*CHROMOSOMES
*GENETIC disorders
*GENES
Subjects
Details
- Language :
- English
- ISSN :
- 10889051
- Volume :
- 18
- Issue :
- 7
- Database :
- Academic Search Index
- Journal :
- Genome Research
- Publication Type :
- Academic Journal
- Accession number :
- 33122151
- Full Text :
- https://doi.org/10.1101/gr.076166.108