title: Mutational analysis of the DNA mismatch repair gene hMLH1 in myeloid leukaemias.
abstract: Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI). Conflicting results regarding the extent of MSI in myeloid leukaemias prompted us to perform mutational analysis of all 19 exons of the hMLH1 gene by polymerase chain reaction-single-stranded conformation polymorphism (PCR-SSCP) and sequence analysis in a total of 133 patients with acute and chronic myeloid leukaemia. Apart from one exonic and one intronic polymorphism, no mutations were detected in any of the samples indicating that the major MMR gene hMLH1 is not involved in the pathogenesis or progression of myeloid malignancies.
authors.affiliation: Division of Haematology, Department of Medicine, Karl-Franzens- University, Graz, Austria.
authors.forename: H W
authors.initials: HW
authors.lastname: Auner
authors.forename: W
authors.initials: W
authors.lastname: Olipitz
authors.forename: G
authors.initials: G
authors.lastname: Hoefler
authors.forename: C
authors.initials: C
authors.lastname: Bodner
authors.forename: D
authors.initials: D
authors.lastname: Konrad
authors.forename: R
authors.initials: R
authors.lastname: Crevenna
authors.forename: W
authors.initials: W
authors.lastname: Linkesch
authors.forename: H
authors.initials: H
authors.lastname: Sill
mesh_terms: D000208:Acute Disease; D048868:Adaptor Proteins, Signal Transducing; D020137:Base Pair Mismatch; D002352:Carrier Proteins; D002908:Chronic Disease; D004260:DNA Repair; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D018895:Microsatellite Repeats; D000070957:MutL Protein Homolog 1; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1