title: Analysis of the HepG2/erythrocyte glucose transporter locus in a family with type 2 (non-insulin-dependent) diabetes and obesity.
abstract: A recent report has shown an association between a specific Xba1 restriction fragment of the human HepG2-Erythrocyte glucose transporter gene and Type 2 (non-insulin dependent) diabetes. To further examine the significance of this finding we have studied Type 2 diabetic pedigrees for linkage between the Xba1 alleles of this glucose transporter gene and diabetes. One large pedigree, in which the diabetic phenotype was associated with obesity and insulin resistance, was informative. In this family the disease did not co-segregate with the glucose transporter locus. Formal linkage analysis was performed assuming autosomal dominant inheritance with age-dependent penetrance. At putative gene frequencies of 0.01 and 0.001 the logarithm of the odds for linkage versus non-linkage at a recombination fraction of 0.001 was -1.84 and -3.32 respectively (a value of less than -2 indicates definite non-linkage). Genetic variations in the HepG2-Erythrocyte glucose transporter gene are unlikely to be responsible for the development of diabetes in this pedigree.
authors.affiliation: Diabetes Research Laboratories, Radcliffe Infirmary, Oxford, UK.
authors.forename: S
authors.initials: S
authors.lastname: O'Rahilly
authors.forename: P
authors.initials: P
authors.lastname: Patel
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
authors.forename: R C
authors.initials: RC
authors.lastname: Turner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000097:blood / Q000235:genetics*; D009765:Obesity; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D009004:Monosaccharide Transport Proteins; D015246:Deoxyribonuclease EcoRI; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific