title: Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.
abstract: Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterised by an early age of onset and an autosomal dominant mode of inheritance. Only a proportion of cases are due to mutations in the glucokinase gene. We have studied five Caucasian MODY families, including the first MODY family to be described, with five candidate genes implicated in regulation of insulin secretion. The affected subjects showed more marked hyperglycaemia than that found in subjects with glucokinase mutations. We assessed polymorphic markers close to the genes for glucokinase, hexokinase II, adenosine deaminase, pituitary adenylate cyclase-activating polypeptide receptor, and glucagon-like peptide-1 receptor. Linkage analysis with diabetes gave cumulative log of the odds (LOD) scores of less than -3, implying that mutations in these genes are unlikely to provide a major genetic contribution to this form of MODY.
authors.affiliation: Diabetes Research Laboratories, Radcliffe Infirmary, Oxford, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: M
authors.initials: M
authors.lastname: Warren-Perry
authors.forename: P J
authors.initials: PJ
authors.lastname: Saker
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: A D
authors.initials: AD
authors.lastname: Mackie
authors.forename: J D
authors.initials: JD
authors.lastname: Baird
authors.forename: R H
authors.initials: RH
authors.lastname: Greenwood
authors.forename: M
authors.initials: M
authors.lastname: Stoffel
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: R C
authors.initials: RC
authors.lastname: Turner
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000097:blood; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D051236:Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide; D011979:Receptors, Pituitary Hormone / Q000235:genetics
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D051236:Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide; D011979:Receptors, Pituitary Hormone; D004247:DNA; D005941:Glucokinase