Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zellteilungszyklus Gen CDC73

Das CDC73-Gen kodiert einen Tumorsupressor. Mutationen führen zu verschiedenen autosomal dominant vererbten Erkrankungen der nebenschilddrüse, wie Hyperparathyroidismus und Karzinome.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Hyperparathyreoidismus
AP2S1
CASR
CDC73
Familiärer isolierter Hyperparathyreoidismus
GCM2
GNA11
Karzinom der Nebenschilddrüse
CDC73

Referenzen:

1.

Carpten JD et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

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2.

Howell VM et al. (2003) HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.

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3.

Shattuck TM et. al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

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4.

Simonds WF et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

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5.

Cavaco BM et al. (2004) Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

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6.

Cetani F et al. (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.

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7.

Moon SD et al. (2005) A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.

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8.

Rozenblatt-Rosen O et al. (2005) The parafibromin tumor suppressor protein is part of a human Paf1 complex.

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9.

Mosimann C et al. (2006) Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo.

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10.

Guarnieri V et al. (2006) Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

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