Detection of an activating c-kit mutation by real-time PCR in patients with anaphylaxis

• Published in: Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis Vol. 572; no. 1-2; pp. 1 - 13
• Main Authors: Lawley, Wendy, Hird, Heather, Mallinder, Philip, McKenna, Sue, Hargadon, Beverley, Murray, Alistair, Bradding, Peter
• Format: Journal Article
• Language: English
• Published: Netherlands 02.05.2005
• Subjects: Anaphylaxis - genetics; Aspartic Acid - genetics; Base Sequence; Blotting, Western; Cell Line; Cloning, Molecular; DNA Primers; Humans; Point Mutation; Polymerase Chain Reaction - methods; Proto-Oncogene Proteins c-kit - genetics; Valine - genetics

A well-characterised gain-of-function point mutation within exon 17 of the c-kit proto-oncogene known as Asp816Val is present in patients with mastocytosis. Activation of mast cells through this receptor primes them for IgE-dependent activation, and patients with mastocytosis are at increased risk o...