Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes

Peter Rotwein, Rose Chyn, John Chirgwin, Barbara Cordell, Howard M. Goodman, M. Alan Permutt

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

Abstract

The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5′-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3′ to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P < .001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.

Original languageEnglish (US)
Pages (from-to)1120-1122
Number of pages3
JournalScience
Volume213
Issue number4512
StatePublished - Jan 1 1981

ASJC Scopus subject areas

  • General

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