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Quantitative detection of rare interphase chromosome breaks and translocations by high-throughput imaging.

ABSTRACT: We report a method for the sensitive detection of rare chromosome breaks and translocations in interphase cells. HiBA-FISH (High-throughput break-apart FISH) combines high-throughput imaging with the measurement of the spatial separation of FISH probes flanking target genome regions of interest. As proof-of-principle, we apply hiBA-FISH to detect with high sensitivity and specificity rare chromosome breaks and translocations in the anaplastic large cell lymphoma breakpoint regions of NPM1 and ALK. This method complements existing approaches to detect translocations by overcoming the need for precise knowledge of translocation breakpoints and it extends traditional FISH by its quantitative nature.

SUBMITTER: Burman B

PROVIDER: S-EPMC4531802 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature

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Quantitative detection of rare interphase chromosome breaks and translocations by high-throughput imaging.

Burman Bharat B Misteli Tom T Pegoraro Gianluca G

Genome biology 20150803

We report a method for the sensitive detection of rare chromosome breaks and translocations in interphase cells. HiBA-FISH (High-throughput break-apart FISH) combines high-throughput imaging with the measurement of the spatial separation of FISH probes flanking target genome regions of interest. As proof-of-principle, we apply hiBA-FISH to detect with high sensitivity and specificity rare chromosome breaks and translocations in the anaplastic large cell lymphoma breakpoint regions of NPM1 and AL ...[more]

PMID: 26313373

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