Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNH-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

Referenzen:

1.

Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

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2.

Shin WS et al. (2000) A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.

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3.

Crimi M et al. (2003) A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

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4.

Melone MA et al. (2004) Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

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5.

Taylor RW et al. (2004) Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

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6.

Yan X et al. (2011) Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

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