title: Mutational analysis of the nf2 tumour suppressor gene in three subtypes of primary human malignant mesotheliomas.
abstract: Fourteen primary human malignant mesothelioma (HMM) samples obtained from 14 patients were screened for point mutations and microdeletions/microinsertions in exons 1-16 of the chromosome 22q-located tumour suppressor gene neurofibromin 2 (nf2) by single strand conformation polymorphism (SSCP) analysis. In one tumour (7%) a 10 basepair microdeletion of exon 10 was detected by SSCP and subsequently characterised in detail by sequencing. Deletion of the second nf2 allele in laser-microdissected regions of the 10 bp mutation-harbouring tumour was demonstrated by denaturing gradient gel electrophoresis (DGGE) analysis. Simultaneous comparative genomic hybridisation (CGH) analysis also showed losses at chromosome 22q. Our data indicate that functional loss of the NF2 protein may be involved in the formation of a subset of HMMs.
authors.affiliation: Institute for Cell Biology and Biosystems Technology, Department of Biological Sciences, University of Rostock, D-18051 Rostock, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Schipper
authors.forename: Thilo
authors.initials: T
authors.lastname: Papp
authors.forename: Georg
authors.initials: G
authors.lastname: Johnen
authors.forename: Heidi
authors.initials: H
authors.lastname: Pemsel
authors.forename: Ralf
authors.initials: R
authors.lastname: Bastrop
authors.forename: Klaus-Michael
authors.initials: KM
authors.lastname: Müller
authors.forename: Thorsten
authors.initials: T
authors.lastname: Wiethege
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Jaworska
authors.forename: Michael
authors.initials: M
authors.lastname: Krismann
authors.forename: Dietmar
authors.initials: D
authors.lastname: Schiffmann
authors.forename: Qamar
authors.initials: Q
authors.lastname: Rahman
mesh_terms: D000368:Aged; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D004251:DNA Transposable Elements; D005091:Exons; D005260:Female; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008297:Male; D008654:Mesothelioma / Q000145:classification / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements