Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

Thyroiddyshormonogenesis 2a
TPO

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.

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

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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.

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

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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

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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15.

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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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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