Mitochondriales TRNR-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:
Referenzen:
| 1. |
Avraham KB et al. (2001) Modifying with mitochondria. [^] |
| 2. |
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. [^] |
| 3. |
Uusimaa J et al. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. [^] |
| 4. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. [^] |
Update: 23. Juni 2016
