title: Molecular characterization of the 7q deletion in myeloid disorders.
abstract: Deletion of the long arm of chromosome 7 is a common karyotypic finding in myeloid disorders and in particular is found in association with secondary leukaemias. We have used restriction fragment length polymorphisms and gene dosage experiments to assess the loss or retention of sequences localized to chromosome 7q in five patients with clonal myeloid disorders and a 7q deletion. The deletion was interstitial in all cases with retention of the anonymous marker pS194 located at 7q36-qter. Three out of five cases also retained the more proximal gene T-cell receptor beta (TCR beta) located at 7q35. The proximal breakpoints of all five cases were localized to 7q22 by cytogenetic analysis. In two cases the proximal breakpoint lay between the genes for elastin (ELN) and collagen type 1 alpha (COL1A2) and in three cases distal to this region between the genes for erythropoietin (EPO) and acetylcholinesterase (ACHE). The genes of ACHE, plasminogen activator inhibitor 1 (PLANH1), CCAAT displacement protein (CUTL1) and Met proto-oncogene (MET) were deleted in all cases. Molecular analysis of the 7q deletion in myeloid leukaemias demonstrates heterogeneity of the breakpoints, supporting a recessive mechanism of tumourigenesis.
authors.affiliation: Department of Haematology, John Radcliffe Hospital, Oxford.
authors.forename: S
authors.initials: S
authors.lastname: Lewis
authors.forename: G
authors.initials: G
authors.lastname: Abrahamson
authors.forename: J
authors.initials: J
authors.lastname: Boultwood
authors.forename: C
authors.initials: C
authors.lastname: Fidler
authors.forename: A
authors.initials: A
authors.lastname: Potter
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
mesh_terms: D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D000090063:Proto-Oncogene Mas