N‐RAS mutations in T‐cell acute lymphocytic leukaemia: analysis by direct sequencing detects a novel mutation

M Bar‐Eli, H Ahuja, AF And… - British journal of …, 1989 - Wiley Online Library
M Bar‐Eli, H Ahuja, AF And, MJ Cline
British journal of haematology, 1989Wiley Online Library
A novel mutation of the N‐RAS gene of T‐ALL blast cells was detected by a direct
sequencing of in vitro amplified exon‐1 of the N‐RAS gene. Threonine (ACA) was
substituted for alanine (GCA) at codon 11. This mutation would have been overlooked by
conventional probe hybridization techniques. A search for other mutations in N‐RAS exon‐1
in T‐ALL revealed a codon 13 mutation substituting aspartic acid (GAT) for glycine (GGT) in
one of 18 patients. No mutations at codon 12 were detected.
Summary
A novel mutation of the N‐RAS gene of T‐ALL blast cells was detected by a direct sequencing of in vitro amplified exon‐1 of the N‐RAS gene. Threonine (ACA) was substituted for alanine (GCA) at codon 11. This mutation would have been overlooked by conventional probe hybridization techniques.
A search for other mutations in N‐RAS exon‐1 in T‐ALL revealed a codon 13 mutation substituting aspartic acid (GAT) for glycine (GGT) in one of 18 patients. No mutations at codon 12 were detected.
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