diabetes of the young (MODY) resulting from mutations in the glucokinase (GCK) gene accounts for approximately 20% of
MODY in the UK. We have performed fluorescent single stranded conformation
polymorphism (F-SSCP) analysis or direct sequencing of the GCK gene in 212
patients referred as part of a research cohort or for diagnostic molecular
genetic testing. Mutation screening has identified 43 different mutations in 61
individuals, of which 21 are novel. This report details the mutations
identified and their associated clinical features.
Copyright 2003 Wiley-Liss, Inc