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

Mitochondriales ND2-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.

Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.

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2.

Cummins JM et al. (1998) Fate of microinjected spermatid mitochondria in the mouse oocyte and embryo.

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3.

Shitara H et al. (1998) Maternal inheritance of mouse mtDNA in interspecific hybrids: segregation of the leaked paternal mtDNA followed by the prevention of subsequent paternal leakage.

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4.

Tanaka M et al. (1998) Mitochondrial genotype associated with longevity.

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5.

Gyllensten U et al. (1991) Paternal inheritance of mitochondrial DNA in mice.

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6.

Pulkes T et al. (2005) Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.

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7.

Yao YG et al. (2002) Mitochondrial DNA 5178A polymorphism and longevity.

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8.

Schwartz M et al. (2002) Paternal inheritance of mitochondrial DNA.

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9.

Kokaze A et al. (2001) Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.

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10.

Brown MD et al. (2001) Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.

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11.

Shitara H et al. (2000) Selective and continuous elimination of mitochondria microinjected into mouse eggs from spermatids, but not from liver cells, occurs throughout embryogenesis.

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12.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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13.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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14.

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

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15.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

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16.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

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17.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

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18.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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19.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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20.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

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21.

Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.

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22.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

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23.

Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

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24.

Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

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25.

Hinttala R et al. (2006) Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

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26.

Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?

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27.

Orphanet article

Orphanet ID 123542 external link
28.

NCBI article

NCBI 4536 external link
29.

OMIM.ORG article

Omim 516001 external link
Update: 14. August 2020
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