title: Analysis of N-RAS exon-1 mutations in myelodysplastic syndromes by polymerase chain reaction and direct sequencing.
abstract: Mutations in codons 12 or 13 of the first exon of the N-RAS gene have been reported in myelodysplastic syndromes (MDS) in frequencies that vary between 9% and 40% depending on the techniques used in analysis. Gene amplification and direct sequencing provides the only unambiguous method of detecting those mutations that induce amino acid alterations. Using this technique, we analyzed 21 MDS patients for mutations in exon-1 of N-RAS. Codon 12 mutations substituting aspartic acid (GAT) for glycine (GGT) were found in four cases, and a codon 13 mutation substituting alanine (GCT) for glycine (GGT) was detected in one patient. We conclude that N-RAS exon-1 mutations in one patient. We conclude that N-RAS exon-1 mutations producing amino acid changes occur in about 20% to 25% of MDS cases.
authors.affiliation: Division of Hematology/Oncology, University of California, Los Angeles 90024-1678.
authors.forename: M
authors.initials: M
authors.lastname: Bar-Eli
authors.forename: H
authors.initials: H
authors.lastname: Ahuja
authors.forename: N
authors.initials: N
authors.lastname: Gonzalez-Cadavid
authors.forename: A
authors.initials: A
authors.lastname: Foti
authors.forename: M J
authors.initials: MJ
authors.lastname: Cline
mesh_terms: D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis / Q000379:methods; D004259:DNA-Directed DNA Polymerase; D005091:Exons; D005784:Gene Amplification; D011905:Genes, ras; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000235:genetics*
chemical_list: D003062:Codon; D004259:DNA-Directed DNA Polymerase