Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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
Research Untersuchungsmethoden Methylisierungsanalyse
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nemaline-Myopathy 5
TNNT1
Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

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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