Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ornithincarbamoyltransferase

Das OTC-Gen kodiert die Ornithincarbamoyltransferase, ein Matrixenzym der Mitochondrien. Funktionsmindernde Mutationen sind für die x-chromosomal rezessive Erkrankung des OTC-Mangels verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Ornithincarbamoyltransferase-Mangel
OTC

Referenzen:

1.

Bowling F et al. (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

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2.

Genet S et al. (2000) Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

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3.

Ploechl E et al. (2001) Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.

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4.

Mavinakere M et al. (2001) The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

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5.

Tuchman M et al. (2002) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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6.

Feldmann D et al. (1992) Site specific screening for point mutations in ornithine transcarbamylase deficiency.

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7.

Tuchman M et al. (1992) Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

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8.

Suess PJ et al. (1992) Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.

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9.

Grompe M et al. (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency.

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10.

Yamaguchi S et al. (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

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11.

Hentzen D et al. (1991) Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

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12.

Strautnieks S et al. (1991) Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

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13.

Carstens RP et al. (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

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14.

Hata A et al. (1991) A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

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15.

Legius E et al. (1990) Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

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16.

Bonaïti-Pellié C et al. (1990) A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

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17.

Finkelstein JE et al. (1990) Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.

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18.

Lee JT et al. (1989) An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

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19.

Hata A et al. (1989) Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

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20.

Hata A et al. (1988) Structure of the human ornithine transcarbamylase gene.

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21.

Maddalena A et al. (1988) Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

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22.

Rozen R et al. () Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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23.

Fox JE et al. (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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24.

Ohtake A et al. (1986) Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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25.

Maddalena A et al. (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

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26.

Cotton RG et al. (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

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27.

Wareham KA et al. () Age related reactivation of an X-linked gene.

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28.

Veres G et al. (1987) The molecular basis of the sparse fur mouse mutation.

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29.

Hata A et al. (1986) Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.

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30.

Horwich AL et al. (1985) A leader peptide is sufficient to direct mitochondrial import of a chimeric protein.

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31.

Horwich AL et al. (1986) Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide.

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32.

DeMars R et al. (1976) Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

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33.

Horwich AL et al. (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

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34.

Hoogenraad N et al. (1983) Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.

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35.

Lindgren V et al. (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

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36.

Horwich AL et al. (1983) Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase.

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37.

Tuchman M et al. (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.

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38.

García-Pérez MA et al. (1995) Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

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39.

Oppliger Leibundgut EO et al. (1995) Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

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40.

Tuchman M et al. (1994) Seven new mutations in the human ornithine transcarbamylase gene.

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41.

Tuchman M et al. (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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42.

Tuchman M et al. (1995) The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

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43.

Tuchman M et al. (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

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44.

Gilbert-Dussardier B et al. (1996) Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

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45.

Matsuda I et al. (1996) Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

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46.

Oppliger Leibundgut EO et al. (1996) Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

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47.

Komaki S et al. (1997) Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

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48.

Oppliger Leibundgut E et al. (1997) Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

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49.

Yorifuji T et al. (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

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