Figure 3.

Case 5 sequence analysis of the insulin receptor gene. (a) Nucleotide sequence of the insulin receptor gene in case 5 is shown in the right panel and compared with that from the control in the left. (b) The position of GC converted to A is indicated with an arrow. This mutation causes a 1-bp deletion leading to a frame shift and a subsequent premature stop codon. (c) Restriction fragment length polymorphism study. PCR products of exon 14 from case 5 were digested with HaeIII. Three bands were observed: 276-bp, 157-bp, and 119-bp bands, thus indicating the presence of both the normal allele and mutant allele.