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Science 4 September 1981:
Vol. 213. no. 4512, pp. 1117 - 1120
DOI: 10.1126/science.6267694

Articles

Science, Vol 213, Issue 4512, 1117-1120
Copyright © 1981 by American Association for the Advancement of Science


articles

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, HM Goodman, and MA Permut

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 less than .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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese.
S. L. Fur, D. Fradin, P. Boileau, and P. Bougneres (2005)
Physiol Genomics 22, 398-401
   Abstract »    Full Text »    PDF »
INS VNTR is a QTL for the insulin response to oral glucose in obese children.
C. Dos Santos, D. Fallin, C. Le Stunff, S. LeFur, and P. Bougneres (2004)
Physiol Genomics 16, 309-313
   Abstract »    Full Text »    PDF »



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