Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Tubby-related Protein 1

Das TULP1-Gen kodiert ein Protein, welches an der Funktion der Photorezeptoren beteiligt ist. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 15.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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 15
TULP1

Referenzen:

1.

Kondo H et. al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

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2.

Knowles JA et. al. (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

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3.

North MA et. al. (1997) Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.

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4.

Hagstrom SA et. al. (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

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5.

Banerjee P et. al. (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

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6.

Lewis CA et. al. (1999) Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

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7.

Ikeda S et. al. (2000) Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.

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8.

Paloma E et. al. (2000) Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

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9.

Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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10.

den Hollander AI et. al. (2007) Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

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11.

Mataftsi A et. al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

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12.

den Hollander AI et. al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

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