Identifizierung neuer Mutationen im Glukokinase-Gen (MODY2) und HNF1alpha-Gen (MODY3)

Zusammenfassung

Maturity-onset diabetes of the young (MODY) ist eine autosomal dominante Form des nicht insulinabhängigen Diabetes. Es werden sechs klinisch und genetisch unterschiedliche Formen unterschieden. Die MODY Formen mit der höchsten Prävalenz in der deutschen Population, MODY2 und MODY3, werden durch Mutationen in den Genen der Glukokinase (GCK) (MODY2) bzw. des Transkriptionsfaktors hepatocyte nuclear factor (HNF)-1α (MODY3) verursacht. Wir haben Familien mit frühem Auftreten von Diabetes mellitus, und klinischem Verdacht auf MODY durch direkte Sequenzierung des GCK- und HNF-1α-Gens untersucht. Neben bekannten Polymorphismen und bereits in anderen Familien identifizierten Mutationen haben wir in einzelnen Familien fünf neue Mutationen identifiziert.

Abstract

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of non insulin dependent diabetes. Six clinical and genetically different forms are known. The MODY forms with the highest prevalence in German population, MODY2 and MODY3, are caused by mutations in the genes for glucokinase (GCK) (MODY2) and the transcription factor hepatocyte nuclear factor (HNF)-1α (MODY3). In families with early onset diabetes mellitus and suspected MODY we investigated GCK and HNF-1α gene by direct sequencing. Next to known polymorphisms and mutations identified in different families, we identified five novel mutations.

Schlüsselwörter

hepatocyte nuclear factor - Glucokinase - maturity-onset diabetes of the young - molekulare Diagnostik

Key words

hepatocyte nuclear factor - Glucokinase - maturity-onset diabetes of the young - molecular diagnostic

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