Polymorphism in the 5′ Flanking Region of the Human Insulin Gene: A Genetic Marker for Non-Insulin-Dependent Diabetes

Peter S. Rotwein, John Chirgwin, Michael Province, William C. Knowler, David J. Pettitt, Barbara Cordell, Howard M. Goodman, M. Alan Permutt

Research output: Contribution to journalArticle

108 Scopus citations


We sought to determine whether differences in the human insulin gene or its immediate flanking sequences could be found in diabetes. Peripheral leukocyte DNA from 217 unrelated persons, including blacks, whites, and Pima Indians, was analyzed by restriction-enzyme digestion, blotting to nitrocellulose filters, and hybridization to cloned [32P]insulin-gene probes. A region of length variation including deletions (0.1 to 0.2 kilo-base pairs) or insertions (0.6 to 5.5 kb) of DNA was found only in the immediate 5′ flanking region in 33 per cent of the genes examined. A 1.6-kb insertion accounted for 80 per cent of the polymorphism. This variant was found more often in subjects with non-insulin-dependent diabetes than in nondiabetics, regardless of race (P = 0.011). Length polymorphism in the 5′ flanking region of the insulin gene may provide a genetic marker for non-insulin-dependent diabetes. (N Engl J Med. 1983; 308:65–71).

Original languageEnglish (US)
Pages (from-to)65-71
Number of pages7
JournalNew England Journal of Medicine
Issue number2
StatePublished - Jan 13 1983


ASJC Scopus subject areas

  • Medicine(all)

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