Mitochondriales RNR1-Gen
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-RNR1 kodiert die 12S mitochondriale Ribosomen-RNA (rRNA). Es wid von den Nukleotiden 648-1601 kodiert. Mutationen führen zur Innenohrschwerhörigkeit, insbesondere unter Aminoglycosiden. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Dai D et al. (2008) Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.
|
2. |
Bu X et al. (1992) Two-locus mitochondrial and nuclear gene models for mitochondrial disorders.
|
3. |
Dai P et al. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
|
4. |
Wang Q et al. (2006) Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.
|
5. |
Ballana E et al. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
|
6. |
Yao YG et al. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.
|
7. |
Bravo O et al. (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
|
8. |
Xing G et al. (2006) Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity.
|
9. |
Guan MX et al. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
|
10. |
Tang X et al. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
|
11. |
Chaig MR et al. (2008) A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.
|
12. |
Yuan H et al. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.
|
13. |
Bacino C et al. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness.
|
14. |
Prezant TR et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.
|
15. |
Guan MX et al. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.
|
16. |
Pandya A et al. (1997) Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.
|
17. |
Gardner JC et al. (1997) Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.
|
18. |
Estivill X et al. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
|
19. |
Bykhovskaya Y et al. (1998) Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.
|
20. |
Casano RA et al. (1998) Hearing loss due to the mitochondrial A1555G mutation in Italian families.
|
21. |
Abe S et al. () Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
|
22. |
Santorelli FM et al. (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.
|
23. |
Wang Q et al. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
|
24. |
Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.
|
25. |
None (1999) Mitochondrial deafness mutations reviewed.
|
26. |
Casano RA et al. () Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications.
|
27. |
Torroni A et al. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
|
28. |
Bykhovskaya Y et al. (2000) Candidate locus for a nuclear modifier gene for maternally inherited deafness.
|
29. |
Guan MX et al. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
|
30. |
Thyagarajan D et al. (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.
|
31. |
Tessa A et al. (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA.
|
32. |
Bykhovskaya Y et al. () Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.
|
33. |
ØStergaard E et al. (2002) The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.
|
34. |
Malik S et al. (2003) Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.
|
35. |
Tekin M et al. (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.
|
36. |
del Castillo FJ et al. (2003) Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
|
37. |
Finnilä S et al. (2003) Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
|
38. |
Malik SG et al. (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.
|
39. |
Zhao H et al. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.
|
40. |
Li R et al. (2004) Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.
|
41. |
Noguchi Y et al. (2004) Audiovestibular findings in patients with mitochondrial A1555G mutation.
|
42. |
Li R et al. (2004) Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
|
43. |
Zhao L et al. (2004) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.
|
44. |
Young WY et al. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
|
45. |
Orphanet article
Orphanet ID 138902
|
46. |
NCBI article
NCBI 4549
|
47. |
OMIM.ORG article
Omim 561000
|
Update: 14. August 2020