Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales TRNS1-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:

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

Referenzen:

1.

Guan MX et al. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

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2.

Sevior KB et al. (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

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3.

Fischel-Ghodsian N et al. () Mitochondrial mutation associated with nonsyndromic deafness.

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4.

Reid FM et al. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

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5.

Reid FM et al. (1994) Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness.

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6.

Tiranti V et al. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

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7.

Hatamochi A et al. (1982) Diffuse palmoplantar keratoderma with deafness.

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8.

Tang X et al. (2010) Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

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9.

Jin L et al. (2007) Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

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10.

Grafakou O et al. (2003) Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

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11.

Chapiro E et al. (2002) Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

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12.

Hutchin TP et al. (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

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13.

Hutchin TP et al. (2001) Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

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14.

Martin L et al. (2000) Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.

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15.

Hutchin TP et al. (2000) A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

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16.

Toompuu M et al. (1999) Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.

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17.

Sue CM et al. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

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18.

Friedman RA et al. (1999) Maternally inherited nonsyndromic hearing loss.

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19.

Verhoeven K et al. (1999) Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

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20.

Nakamura M et al. (1995) A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

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21.

Jaksch M et al. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

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22.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

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23.

NCBI article

NCBI 4574 external link
24.

OMIM.ORG article

Omim 590080 external link
25.

Orphanet article

Orphanet ID 167901 external link
Update: 14. August 2020
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