Troponin T des langsamen Skelettmuskels
Das TNNT1-Gen kodiert eine Untereinheit des Troponins. Mutationen sind für die autosomal rezessive Nemaline-Myopathy 5. Epigenetische Modifikation in diesem Gen wurde im Zusammenhang mit Fettstoffwechselstörungen beobachtet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.
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2. |
Braun KV et al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.
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3. |
Samson F et al. (1992) Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis.
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4. |
Novelli G et al. (1992) Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.
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5. |
Samson F et al. (1990) Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA.
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6. |
Nadal-Ginard B et al. (1989) Molecular basis of cardiac performance. Plasticity of the myocardium generated through protein isoform switches.
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7. |
Samson F et al. (1994) A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene.
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8. |
Barton PJ et al. (1999) Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.
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9. |
Johnston JJ et al. (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
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10. |
Jin JP et al. (2003) Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
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11. |
Wang X et al. (2005) Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
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12. |
Guay SP et al. (2014) Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia.
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13. |
Orphanet article
Orphanet ID 120188
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14. |
NCBI article
NCBI 7138
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15. |
OMIM.ORG article
Omim 191041
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Update: 14. August 2020