title: Interrogation of genomes by molecular copy-number counting (MCC).
abstract: 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.
authors.affiliation: MRC Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK.
authors.forename: Angelika
authors.initials: A
authors.lastname: Daser
authors.forename: Madan
authors.initials: M
authors.lastname: Thangavelu
authors.forename: Richard
authors.initials: R
authors.lastname: Pannell
authors.forename: Alan
authors.initials: A
authors.lastname: Forster
authors.forename: Louise
authors.initials: L
authors.lastname: Sparrow
authors.forename: Grace
authors.initials: G
authors.lastname: Chung
authors.forename: Paul H
authors.initials: PH
authors.lastname: Dear
authors.forename: Terence H
authors.initials: TH
authors.lastname: Rabbitts
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods; D018628:Gene Dosage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*