Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyreoglobulin

Das TG-Gen kodiert das Thyreoglobulin, eine Tyrosinreiches Jod-Speicherprotein in den Follikeln der Schilddrüse. Mutationen führen zu autosomal rezessiver Thyroiddyshormonogenesis 3. Einige Polimorphismen sind mit Autoimmunerkrankungen der Schilddrüse assoziiert.

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 3
TG
Neigung zu autoimmunbedingten Schilddrüsenerkrankungen 3
TG
ZFAT

Referenzen:

1.

Adkison LR et. al. (1990) Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog/cog) in mice.

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2.

Ieiri T et. al. (1991) A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

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3.

Targovnik H et. al. (1989) Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.

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4.

Taylor BA et. al. (1987) The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.

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5.

Baas F et. al. (1985) The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24.

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6.

Ricketts MH et. al. (1985) Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle.

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7.

Baas F et. al. (1986) The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb.

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8.

Ricketts MH et. al. (1987) A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.

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9.

Malthiéry Y et. al. (1987) Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.

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10.

None (1987) Merging autosomal dominance and recessivity.

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11.

Kok K et. al. () Autosomal recessive inheritance of goiter in Dutch goats.

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12.

Beamer WG et. al. (1987) Inherited congenital goiter in mice.

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13.

Bergé-Lefranc JL et. al. (1985) Localization of the thyroglobulin gene by in situ hybridization to human chromosomes.

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14.

Brocas H et. al. (1985) The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat.

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15.

Avvedimento VE et. al. (1985) Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.

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16.

Baas F et. al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

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17.

Targovnik HM et. al. (1995) A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

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18.

Corral J et. al. (1993) Thyroglobulin gene point mutation associated with non-endemic simple goitre.

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19.

Targovnik HM et. al. (1993) A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

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20.

Targovnik HM et. al. (1998) Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

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21.

Kim PS et. al. (1998) A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.

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22.

Hishinuma A et. al. (1999) Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

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23.

van de Graaf SA et. al. (1999) A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

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24.

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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25.

Kim PS et. al. (2000) A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.

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26.

Targovnik HM et. al. (2001) Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.

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27.

Caron P et. al. (2003) Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

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28.

Ban Y et. al. (2003) Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease.

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29.

Gutnisky VJ et. al. (2004) Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

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30.

Collins JE et. al. (2004) Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom.

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31.

Rivolta CM et. al. (2005) A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

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32.

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

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33.

Vono-Toniolo J et. al. (2005) Naturally occurring mutations in the thyroglobulin gene.

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34.

Hishinuma A et. al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

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35.

Alzahrani AS et. al. (2006) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.

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36.

Kitanaka S et. al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

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37.

Hishinuma A et. al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

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38.

Kanou Y et. al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

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39.

Hsiao JY et. al. (2007) Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese.

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40.

Stefan M et. al. (2011) Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism.

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