title: Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families.
abstract: MODY is a form of NIDDM inherited as an autosomal dominant condition. We studied the linkage of MODY to two loci: ADA and GLUT2 in two large pedigrees with nonradioactive microsatellite polymorphic systems. A positive linkage of ADA to MODY was recently demonstrated in the large RW pedigree. Formal linkage analysis excluded a tight linkage between ADA and MODY with a LOD score of -5.82 and -2.24 at a recombination fraction of 0.01 in the two families. This result suggests genetic heterogeneity in the molecular basis of MODY. GLUT2 is a candidate gene that is expressed in the liver and beta-cells of pancreatic islets. In the two families studied, the disease did not cosegregate with GLUT2 alleles. The LOD scores for GLUT2 were -7.79 and -1.9 at a recombination fraction of 0.001 in the two families, thus providing evidence against the involvement of GLUT2 in MODY.
authors.affiliation: Department of Haematology, John Radcliffe Hospital, Oxford, UK.
authors.forename: P
authors.initials: P
authors.lastname: Patel
authors.forename: Y M
authors.initials: YM
authors.lastname: Lo
authors.forename: A
authors.initials: A
authors.lastname: Hattersley
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: A
authors.initials: A
authors.lastname: Tybjaerg-Hansen
authors.forename: J
authors.initials: J
authors.lastname: Nerup
authors.forename: R C
authors.initials: RC
authors.lastname: Turner
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D009004:Monosaccharide Transport Proteins; D000243:Adenosine Deaminase