Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Retinol-Dehydrogenase 12

Das RDH12-Gen kodiert ein Enzym des Retinol-Stoffwechsels. Mutationen verursachen Lebersche kongenitale Amaurose Typ 13 und Retinitis Pigmentosa 53.

Diagnostik:

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

Krankheiten:

Lebersche kongenitale Amaurose 13
RDH12

Referenzen:

1.

Benayoun L et. al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

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2.

Haeseleer F et. al. (2002) Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.

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3.

Janecke AR et. al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

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4.

Perrault I et. al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

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5.

Thompson DA et. al. (2005) Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

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6.

Fingert JH et. al. (2008) Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

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