title: Germline rearrangement of MCC and APC detected by pulsed field gel electrophoresis and fluorescent in situ hybridization.
abstract: Pulsed field gel electrophoresis was carried out on lymphocyte DNA obtained from ten patients with the inherited premalignant condition adenomatous polyposis coli and a similar number of control samples to search for large scale molecular rearrangements in the vicinity of the APC locus. DNA from one patient showed a rearranged pattern which was interpreted as evidence for an inversion of approximately 150 kb, changing the transcriptional orientation of the neighbouring MCC gene and bringing it closer to APC. Such an interpretation was supported by fluorescent in situ hybridization data.
authors.affiliation: Galton Laboratory, Department of Genetics and Biometry, University College London.
authors.forename: S
authors.initials: S
authors.lastname: Gayther
authors.forename: D
authors.initials: D
authors.lastname: Wells
authors.forename: K
authors.initials: K
authors.lastname: Gulati
authors.forename: P
authors.initials: P
authors.lastname: Chapman
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: J D
authors.initials: JD
authors.lastname: Delhanty
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D007446:Chromosome Inversion; D018244:Chromosomes, Artificial, Yeast; D004247:DNA / Q000032:analysis / Q000097:blood*; D004587:Electrophoresis, Agar Gel / Q000379:methods; D015321:Gene Rearrangement; D017491:Genes, APC; D017431:Genes, MCC; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008214:Lymphocytes / Q000378:metabolism; D011230:Precancerous Conditions / Q000235:genetics; D015183:Restriction Mapping
chemical_list: D004247:DNA