Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Thyreotropin-beta-Untereinheit

Das TSHB-Gen kodiert die beta-Kette des TSH. Dieses Protein stimuliert spezifisch das Wachstum und die Hormonsekretion in der Schilddrüse. Mutationen verursachen die autosomal rezessive kongenitale Hypothyreose ohne Struma 4.

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

Verknüpfte Erkrankungen:

Kongenitale Hypothyreose ohne Struma 4
TSHB

Referenzen:

1.

Dacou-Voutetakis C et al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

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2.

Hayashizaki Y et al. (1985) Molecular cloning of the human thyrotropin-beta subunit gene.

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3.

Fukushige S et al. (1986) Chromosomal assignment of human genes for gastrin, thyrotropin (TSH)-beta subunit and C-erbB-2 by chromosome sorting combined with velocity sedimentation and Southern hybridization.

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4.

Naylor SL et al. (1986) Mapping thyrotropin beta subunit gene in man and mouse.

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5.

Wondisford FE et al. (1988) Cloning of the human thyrotropin beta-subunit gene and transient expression of biologically active human thyrotropin after gene transfection.

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6.

Dracopoli NC et al. (1986) Assignment of the gene for the beta subunit of thyroid-stimulating hormone to the short arm of human chromosome 1.

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7.

Dracopoli NC et al. (1988) Two thyroid hormone regulated genes, the beta-subunits of nerve growth factor (NGFB) and thyroid stimulating hormone (TSHB), are located less than 310 kb apart in both human and mouse genomes.

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8.

Moseley WS et al. (1989) Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1.

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9.

Wondisford FE et al. (1988) Isolation and characterization of the human thyrotropin beta-subunit gene. Differences in gene structure and promoter function from murine species.

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10.

Tokino T et al. (1990) Chromosome regional mapping for the human thyroid stimulating hormone beta subunit (TSHB) gene.

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11.

Borck G et al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

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12.

Brumm H et al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

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13.

Pohlenz J et al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

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14.

Vuissoz JM et al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

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15.

Bonomi M et al. (2001) Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

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16.

Doeker BM et al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

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17.

Medeiros-Neto G et al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

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18.

Hayashizaki Y et al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

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19.

Dracopoli NC et al. (1990) Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat.

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20.

Orphanet article

Orphanet ID 166731 external link
21.

NCBI article

NCBI 7252 external link
22.

OMIM.ORG article

Omim 188540 external link
Update: 14. August 2020
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