Analysis of N-RAS exon-1 mutations in myelodysplastic syndromes by
polymerase chain reaction and direct sequencing
M Bar-Eli, H Ahuja, N Gonzalez-Cadavid, A Foti and MJ Cline
Division of Hematology/Oncology, University of California, Los Angeles
90024-1678.
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.
Volume 73,
Issue 1,
pp. 281-283,
01/01/1989
Copyright © 1989 by The American Society of Hematology
