Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Inosin-5'-Monophosphate-Dehydrogenase 1

Das IMPDH1-Gen ein Enzym des Inosin-Stoffwechsels und ist damit an der regulation des Zellwachstums beteiligt. Mutationen verursachen autosomal dominante Lebersche kongenitale Amaurose Typ 11 und Retinitis pigmentosa Typ 10.

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 11
IMPDH1

Referenzen:

1.

Natsumeda Y et. al. (1990) Two distinct cDNAs for human IMP dehydrogenase.

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2.

Collart FR et. al. (1988) Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs.

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3.

Gu JJ et. al. (1994) Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32).

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4.

Doggett NA et. al. (1993) Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.

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5.

Kennan A et. al. (2002) Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

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6.

Bowne SJ et. al. (2002) Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

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7.

Aherne A et. al. (2004) On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

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8.

Wada Y et. al. (2005) Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

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9.

Bowne SJ et. al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

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10.

Bischof JM et. al. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

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11.

Coussa RG et. al. (2015) Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

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