title: PCR- and restriction endonuclease-based detection of IDH1 mutations.
abstract: Hotspot mutations in codon 132 of the gene encoding isocitrate dehydrogenase 1 (IDH1) have emerged as the most frequent DNA alteration in astrocytomas, oligodendrogliomas and oligoastrocytomas. These mutations have been shown to be of significant diagnostic and prognostic value. So far, assessment of IDH1 mutation relied on DNA sequencing techniques. We generated a set of primers suitable for endonuclease-based detection of hotspot mutations in codon 132 of IDH1. This primer set will allow determining these mutations without the need of DNA sequencing. One set of primer sets is designed to detect the presence or absence of IDH1 mutations in codon 132, while the other primer sets individually recognize the R132H, R132C, R132S, R132G and R132L mutations.
authors.affiliation: Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Jochen
authors.initials: J
authors.lastname: Meyer
authors.forename: Stefan
authors.initials: S
authors.lastname: Pusch
authors.forename: Jörg
authors.initials: J
authors.lastname: Balss
authors.forename: David
authors.initials: D
authors.lastname: Capper
authors.forename: Wolf
authors.initials: W
authors.lastname: Mueller
authors.forename: Arne
authors.initials: A
authors.lastname: Christians
authors.forename: Christian
authors.initials: C
authors.lastname: Hartmann
authors.forename: Andreas
authors.initials: A
authors.lastname: von Deimling
mesh_terms: D000595:Amino Acid Sequence; D003062:Codon; D017931:DNA Primers; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods*; D015183:Restriction Mapping / Q000379:methods*
chemical_list: D003062:Codon; D017931:DNA Primers; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human