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  • Title: Identification of a point mutation in the human insulin gene giving rise to a structurally abnormal insulin (insulin Chicago).
    Author: Kwok SC, Steiner DF, Rubenstein AH, Tager HS.
    Journal: Diabetes; 1983 Sep; 32(9):872-5. PubMed ID: 6313457.
    Abstract:
    Both insulin gene alleles of a diabetic patient with a mutant insulin were cloned in a lambda vector and their nucleotide sequences were determined. Nucleotide sequence analysis revealed, in one allele, a C (cytidylate) to G (guanylate) transversion in the codon for phenylalanine at position 25 of the insulin B-chain. This point mutation leads to the substitution of a leucine for phenylalanine accompanied by the loss of a restriction endonuclease Mboll recognition site and the creation of a new Rsal cleavage site at this position.
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