Y. Zhang et al., CANDIDATE GENE STUDIES IN PEDIGREES WITH MATURITY-ONSET DIABETES OF THE YOUNG NOT LINKED WITH GLUCOKINASE, Diabetologia, 38(9), 1995, pp. 1055-1060
Citations number
35
Categorie Soggetti
Endocrynology & Metabolism","Medicine, General & Internal
Maturity-onset diabetes of the young (MODY) is a form of non-insulin-d
ependent 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 Cau
casian MODY families, including the first MODY family to be described,
with five candidate genes implicated in regulation of insulin secreti
on. 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 d
eaminase, 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.