Interrogation of genomes by molecular copy-number counting (MCC).
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 gen...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2006
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| _version_ | 1826260676841046016 |
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| author | Daser, A Thangavelu, M Pannell, R Forster, A Sparrow, L Chung, G Dear, P Rabbitts, T |
| author_facet | Daser, A Thangavelu, M Pannell, R Forster, A Sparrow, L Chung, G Dear, P Rabbitts, T |
| author_sort | Daser, A |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T19:09:28Z |
| format | Journal article |
| id | oxford-uuid:16489497-a88d-470a-9d1e-d3142531e399 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:09:28Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:16489497-a88d-470a-9d1e-d3142531e3992022-03-26T10:30:26ZInterrogation of genomes by molecular copy-number counting (MCC).Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:16489497-a88d-470a-9d1e-d3142531e399EnglishSymplectic Elements at Oxford2006Daser, AThangavelu, MPannell, RForster, ASparrow, LChung, GDear, PRabbitts, THuman 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. |
| spellingShingle | Daser, A Thangavelu, M Pannell, R Forster, A Sparrow, L Chung, G Dear, P Rabbitts, T Interrogation of genomes by molecular copy-number counting (MCC). |
| title | Interrogation of genomes by molecular copy-number counting (MCC). |
| title_full | Interrogation of genomes by molecular copy-number counting (MCC). |
| title_fullStr | Interrogation of genomes by molecular copy-number counting (MCC). |
| title_full_unstemmed | Interrogation of genomes by molecular copy-number counting (MCC). |
| title_short | Interrogation of genomes by molecular copy-number counting (MCC). |
| title_sort | interrogation of genomes by molecular copy number counting mcc |
| work_keys_str_mv | AT dasera interrogationofgenomesbymolecularcopynumbercountingmcc AT thangavelum interrogationofgenomesbymolecularcopynumbercountingmcc AT pannellr interrogationofgenomesbymolecularcopynumbercountingmcc AT forstera interrogationofgenomesbymolecularcopynumbercountingmcc AT sparrowl interrogationofgenomesbymolecularcopynumbercountingmcc AT chungg interrogationofgenomesbymolecularcopynumbercountingmcc AT dearp interrogationofgenomesbymolecularcopynumbercountingmcc AT rabbittst interrogationofgenomesbymolecularcopynumbercountingmcc |