Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wachstumshormonrezeptor

Das GHR-Gen kodiert den Wachtumshormonrezeptor, ein transmembranöser Rezeptor der Zytokinrezeptorfamilie 1. Durch die Bindung an Wachstumshormon kommt es zu einer Dimerisierung und einer Signaltraduktion in die Zelle. Dabei werden weitere Wachstumsstimulierende Faktoren (Somatomedine) freigesetzt. Am bekanntensten is Somatomedin C auch als IGF1 bekannt. Die Inaktivierung des Rezeptors erfolgt unter anderem durch die Abspaltung des extrazellulären hormonbindenen Anteils. Dieser Anteil ist als Wachstumshormonbindendes Protein (GHBP) im Serum nachweisbar. Mutationen können zu einem verminderten Ansprechen, wie beim autosomal rezessiven Laron-Syndrom oder bei der autosomal dominanten Wachstumshormonresistenz, einem vermehrten Ansprechen, wie bei der Wachstumshormonhypersensitivität, und zu Hypercholesterinämien führen.

Genstruktur

Ein häufiger Polymorphismus in diesem gen ist die Deletion des gesamten Exons 3. Diese Variante wird als GHRd3 bezeichnet und dem vorhandenen Exon 3 mit der Bezeichnung GHRfl gegenübergestellt. Die Häufigkeit der drei möglichen Genotypen beträgt GHRfl/GHRfl 35-53%, GHRfl/GHRd3 33–58% und GHRd3/ GHRd3 7-26%. Ein stärkeres ansprechen auf Wachstumshormon wurde bei der Variante GHRd3 beobachtet. Dieser Polymorphismus ist in der Evolution wahrscheinlich durch eine Retrovirusinfektion entstanden.[1]

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Laron-Syndrom
GHR
Wachstumshormon-Überempfindlichkeit
GHR

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