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

P. Rotwein, R. Chyn, J. Chirgwin, B. Cordell, H. M. Goodman, M. A. Permut

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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

Original languageEnglish (US)
Pages (from-to)1117-1120
Number of pages4
JournalScience
Volume213
Issue number4512
DOIs
Publication statusPublished - 1981
Externally publishedYes

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ASJC Scopus subject areas

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Rotwein, P., Chyn, R., Chirgwin, J., Cordell, B., Goodman, H. M., & Permut, M. A. (1981). Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science, 213(4512), 1117-1120. https://doi.org/10.1126/science.6267694