title: Genetic analysis using genomic representations.
abstract: Analysis of the genetic changes in human tumors is often problematical because of the presence of normal stroma and the limited availability of pure tumor DNA. However, large amounts of highly reproducible "representations" of tumor and normal genomes can be made by PCR from nanogram amounts of restriction endonuclease cleaved DNA that has been ligated to oligonucleotide adaptors. We show here that representations are useful for many types of genetic analyses, including measuring relative gene copy number, loss of heterozygosity, and comparative genomic hybridization. Representations may be prepared even from sorted nuclei from fixed and archived tumor biopsies.
authors.affiliation: Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.
authors.forename: R
authors.initials: R
authors.lastname: Lucito
authors.forename: M
authors.initials: M
authors.lastname: Nakimura
authors.forename: J A
authors.initials: JA
authors.lastname: West
authors.forename: Y
authors.initials: Y
authors.lastname: Han
authors.forename: K
authors.initials: K
authors.lastname: Chin
authors.forename: K
authors.initials: K
authors.lastname: Jensen
authors.forename: R
authors.initials: R
authors.lastname: McCombie
authors.forename: J W
authors.initials: JW
authors.lastname: Gray
authors.forename: M
authors.initials: M
authors.lastname: Wigler
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D018734:Genes, erbB-2; D006580:Genetic Carrier Screening; D015894:Genome, Human; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology; D010920:Placenta; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D015183:Restriction Mapping
chemical_list: D004273:DNA, Neoplasm; D004247:DNA