Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Mitochondriales TRNN-Gen

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

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

Vives-Bauza C et al. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

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2.

Meulemans A et al. (2006) A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

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3.

Seibel P et al. (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.

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4.

Clayton DA et al. (1993) Heavy traffic at a dual-purpose human mitochondrial tRNA gene.

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5.

Moraes CT et al. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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6.

Hao H et al. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

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Update: 26. September 2018