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Original Articles

Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis

  1. Fabrizio Barbetti,
  2. Pablo V Gejman,
  3. Simeon I Taylor,
  4. Nina Raben,
  5. Alessandro Cama,
  6. Enzo Bonora,
  7. Paolo Pizzo,
  8. Paolo Moghetti,
  9. Michele Muggeo and
  10. Jesse Roth
  1. Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Disease, and the Clinical Neurogenetics Branch, NaJonal Institute of Mental Health, National Institutes of Health Bethesda, Maryland Departments of Metabolic Diseases and of Pediatrics, Ospedale Policlinico, University of Verona Verona, Italy
  1. Address correspondence and reprint requests to Dr Simeon I. Taylor, National Institutes of Health, Building 10, Room 8S-235, Bothesda, MD 20892 or to Dr. Fabrizio Barbetti, Section of Genetic and Metabolic Diseases, Department of Experimental Medicine, University La-Sapienza via dei Sabelli, 108, 00185, Rome, Italy.
Diabetes 1992 Apr; 41(4): 408-415. https://doi.org/10.2337/diab.41.4.408
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Abstract

Denaturing gradient gel electrophoresis (DGGE) has been used to screen for mutations in the insulin receptor gene. Each of the 22 exons was amplified by the polymerase chain reaction (PCR). For each exon, one of the two PCR primers contained a guanine-cytosine (GC) clamp at its 5′ end. The DNA was analyzed by electrophoresis through a polyacrylamide gel containing a gradient of denaturants. Two geometries for the gels were compared; the gradient of denaturants was oriented either parallel or perpendicular to the electric field. The sensitivity of the technique was evaluated by determining whether DGGE succeeded in detecting known mutations and polymorphisms in the insulin receptor gene. With parallel gels, 12 of 16 sequence variants were detected. The use of perpendicular gels increased the sensitivity of detection so that all 16 sequence variants were successfully detected when DNA was analyzed by a combination of perpendicular and parallel gels. Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. Two mutant alleles were identified in this patient. The allele inherited from the father had a mutation substituting alanine for Val-28; in the allele inherited from the mother, arginine was substituted for Gly-366.

  • Received July 10, 1991.
  • Revision received November 8, 1991.
  • Accepted November 8, 1991.
  • Copyright © 1992 by the American Diabetes Association

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April 1992, 41(4)
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Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis
Fabrizio Barbetti, Pablo V Gejman, Simeon I Taylor, Nina Raben, Alessandro Cama, Enzo Bonora, Paolo Pizzo, Paolo Moghetti, Michele Muggeo, Jesse Roth
Diabetes Apr 1992, 41 (4) 408-415; DOI: 10.2337/diab.41.4.408

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Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis
Fabrizio Barbetti, Pablo V Gejman, Simeon I Taylor, Nina Raben, Alessandro Cama, Enzo Bonora, Paolo Pizzo, Paolo Moghetti, Michele Muggeo, Jesse Roth
Diabetes Apr 1992, 41 (4) 408-415; DOI: 10.2337/diab.41.4.408
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