ISSN:
1432-0428
Schlagwort(e):
Key words Maturity-onset diabetes of the young
;
glucokinase
;
adenosine deaminase
;
pituitary adenylate cyclase-activation polypeptide receptor
;
hexokinase II
;
glucagon-like peptide-1 receptor
;
polymerase chain reaction
;
linkage analysis.
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Summary 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. [Diabetologia (1995) 38: 1055–1060]
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00402175
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