Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial TRNQ gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

References:

1.

Bataillard M et al. (2001) Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.

external link
2.

Dey R et al. (2000) A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop.

external link
3.

Finnilä S et al. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln.

external link
4.

NCBI article

NCBI 4572 external link
5.

OMIM.ORG article

Omim 590030 external link
6.

Orphanet article

Orphanet ID 138906 external link
Update: Aug. 14, 2020
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