Journal
NATURE METHODS
Volume 3, Issue 6, Pages 447-453Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/NMETH880
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Funding
- Medical Research Council [MC_U105178807, MC_U105131672] Funding Source: researchfish
- MRC [MC_U105131672, MC_U105178807] Funding Source: UKRI
- Medical Research Council [MC_U105178807, MC_U105131672] Funding Source: Medline
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Human cancers and some congenital traits are characterized by cytogenetic aberrations including translocations, amplifications, duplications or deletions that can involve gain or loss of genetic material. We have developed a simple method to precisely delineate such regions with known or cryptic genomic alterations. Molecular copy-number counting (MCC) uses PCR to interrogate miniscule amounts of genomic DNA and allows progressive delineation of DNA content to within a few hundred base pairs of a genomic alteration. As an example, we have located the junctions of a recurrent nonreciprocal translocation between chromosomes 3 and 5 in human renal cell carcinoma, facilitating cloning of the breakpoint without recourse to genomic libraries. The analysis also revealed additional cryptic chromosomal changes close to the translocation junction. MCC is a fast and flexible method for characterizing a wide range of chromosomal aberrations.
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