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| Item Type: | Article |
|---|---|
| Title: | Mapping translocation breakpoints by next-generation sequencing |
| Creators Name: | Chen, W., Kalscheuer, V., Tzschach, A., Menzel, C., Ullmann, R., Schulz, M.H., Erdogan, F., Li, N., Kijas, Z., Arkesteijn, G., Pajares, I.L., Goetz-Sothmann, M., Heinrich, U., Rost, I., Dufke, A., Grasshoff, U., Glaeser, B., Vingron, M. and Ropers, H.H. |
| 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. |
| Keywords: | Base Sequence, Chromosome Breakage, Chromosome Mapping, Mental Retardation, Molecular Sequence Data, DNA Sequence Analysis, Genetic Translocation |
| Source: | Genome Research |
| ISSN: | 1088-9051 |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Volume: | 18 |
| Number: | 7 |
| Page Range: | 1143-1149 |
| Date: | July 2008 |
| Official Publication: | https://doi.org/10.1101/gr.076166.108 |
| PubMed: | View item in PubMed |
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