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 |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Deladoëy J et al. (2008) Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
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3. |
Fugazzola L et al. (2003) Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.
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4. |
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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5. |
Bakker B et al. (2001) Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.
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6. |
Bikker H et al. (1997) Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.
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7. |
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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8. |
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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9. |
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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10. |
de Vijlder JJ et al. (1988) Regional localization of the gene for thyroid peroxidase to human chromosome 2pter----p12.
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11. |
Kimura S et al. (1989) Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene.
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12. |
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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13. |
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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14. |
Medeiros-Neto G et al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene.
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15. |
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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16. |
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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17. |
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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18. |
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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19. |
Park SM et al. (2005) Genetics of congenital hypothyroidism.
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20. |
Orphanet article
Orphanet ID 120233
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21. |
NCBI article
NCBI 7173
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22. |
OMIM.ORG article
Omim 606765
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23. |
Wikipedia Artikel
Wikipedia DE (Thyreoperoxidase)
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Update: 14. August 2020