Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Schilddrüsen-Peroxidase

Das TPO-gen kodiert ein wichtiges Enzym der Schilddrüsenhormonsynthese. Es ist die membrangebundene Peroxidase, wie für die Kopplung zweiert Tyrosin-Reste verantwortlich ist. Mutationen führen zu gestörter Schilddrüsenhormonproduktion mit Strumabildung, der autosomal rezessiven Thyroiddyshormonogenesis 2a.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Thyroiddyshormonogenesis 2a
TPO

Referenzen:

1.

Park SM et al. (2005) Genetics of congenital hypothyroidism.

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2.

Lazar V et al. (1999) Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.

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3.

Abramowicz MJ et al. (1992) Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

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4.

Bikker H et al. (1995) Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

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5.

Bikker H et al. (1994) A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.

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6.

Bikker H et al. (1996) Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.

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7.

Medeiros-Neto G et al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene.

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8.

Pannain S et al. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

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9.

Bakker B et al. (2000) Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

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10.

Kimura S et al. (1989) Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene.

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11.

de Vijlder JJ et al. (1988) Regional localization of the gene for thyroid peroxidase to human chromosome 2pter----p12.

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12.

Kimura S et al. (1987) Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.

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13.

Seto P et al. (1987) Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase.

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14.

Endo Y et al. (1995) Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C.

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15.

Bikker H et al. (1997) Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.

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16.

Bakker B et al. (2001) Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

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17.

Niu DM et al. (2002) High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

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18.

Fugazzola L et al. (2003) Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

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19.

Deladoëy J et al. (2008) Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

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20.

Orphanet article

Orphanet ID 120233 [^]
21.

NCBI article

NCBI 7173 [^]
22.

OMIM.ORG article

Omim 606765 [^]
23.

Wikipedia Artikel

Wikipedia DE (Thyreoperoxidase) [^]
Update: 9. Mai 2019