The liver/islet (GLUT2) and muscle/adipose tissue (GLUT4) glucose-transporter gene products, membrane proteins that facilitate glucose uptake into cells, are important molecules for normal carbohydrate metabolism. Recent isolation of the genes encoding these proteins provides a means to assess the role of possible defects that might contribute to impaired glucose-stimulated insulin secretion or impaired insulin-mediated glucose uptake, both prominent phenotypic features of non-insulin-dependent diabetes (NIDDM). A GLUT2 cDNA clone was isolated from a human liver cDNA library to search for polymorphisms at this locus in American Blacks. Three highly polymorphic sites were identified, one of which (EcoRI–Hae III) appears to be due to an insertion and/or deletion of 200 base pairs of DNA. Significant linkage disequilibrium between these sites over ∼30 kilobases of genomic DNA suggested that these polymorphisms could be in linkage disequilibrium with mutations at this locus if they exist. A GLUT4 cDNA clone was also utilized to search for polymorphisms at this locus, but only one previously described polymorphism was observed. GLUT2 and GLUT4 cDNA probes were used to evaluate DNA polymorphisms in genomic DNA from American Blacks with NIDDM. The allelic, genotypic, and haplotypic frequencies of the DNA polymorphisms at these loci did not differ from the frequencies in nondiabetic subjects. Because no associations with NIDDM were found, it appears unlikely that mutations at these loci contribute in a major way to the genetic susceptibility to NIDDM observed in American Blacks.
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Original Articles|
December 01 1990
Polymorphisms of GLUT2 and GLUT4 Genes: Use in Evaluation of Genetic Susceptibility to NIDDM in Blacks
Akira Matsutani;
Akira Matsutani
Metabolism Division, Washington University School of Medicine
St. Louis, Missouri
Howard Hughes Medical Institute and Department of Medicine, University of Chicago
Chicago, Illinois
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Laszlo Koranyi;
Laszlo Koranyi
Metabolism Division, Washington University School of Medicine
St. Louis, Missouri
Howard Hughes Medical Institute and Department of Medicine, University of Chicago
Chicago, Illinois
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Nancy Cox;
Nancy Cox
Metabolism Division, Washington University School of Medicine
St. Louis, Missouri
Howard Hughes Medical Institute and Department of Medicine, University of Chicago
Chicago, Illinois
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M Alan Permutt
M Alan Permutt
Metabolism Division, Washington University School of Medicine
St. Louis, Missouri
Howard Hughes Medical Institute and Department of Medicine, University of Chicago
Chicago, Illinois
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Address correspondence and reprint requests to M. Alan Permutt, MD, Metabolism Division, Washington University School of Medicine, 660 South Euclid, Box 8127, St. Louis, MO 63110.
Diabetes 1990;39(12):1534–1542
Article history
Received:
March 12 1990
Revision Received:
July 27 1990
Accepted:
July 27 1990
PubMed:
1978828
Citation
Akira Matsutani, Laszlo Koranyi, Nancy Cox, M Alan Permutt; Polymorphisms of GLUT2 and GLUT4 Genes: Use in Evaluation of Genetic Susceptibility to NIDDM in Blacks. Diabetes 1 December 1990; 39 (12): 1534–1542. https://doi.org/10.2337/diab.39.12.1534
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