Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
J. Clin. Invest. Hanna Huopio, et al. 106:897 doi:10.1172/JCI9804 [Go to this article.]

Figure 1
Demonstration of the mutation E1506K. (a) SSCP-analysis of the SUR1 exon 37. Results are shown for two individuals carrying the E1506K mutation (Mt) and two controls (Wt). The abnormally migrating DNA fragment is marked with an arrow. The gel was run for 4 hours at 38°C. (b) Sequence analysis reveals a G→A mutation in the genomic sequence resulting in the substitution of glutamic acid for lysine. (c) Detection of the mutation by restriction analysis of PCR-amplified genomic DNA. Mutation E1506K causes the disappearance of a MnlI restriction site, leading to the formation of a new 89-bp digestion product for the mutated allele (arrow). MW, molecular weight marker; Mt, mutant; Wt, wild type.