Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Aldolase B

Das ALDOB-Gen kodiert die Aldolase B. Dieses Enzym kommt in fast allen Körperzellen vor, beim Erwachsenen aber insbesondere in Leber, Niere und Darm. Es ist für die Verstoffwechselung der Fruktose verantwortlich. Mutationen bewirken die autosomal rezessive Erkrankung der Fruktose-Intoleranz.

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:

Fruktoseintoleranz
ALDOB

Referenzen:

1.

Santamaria R et al. () Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

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2.

Rellos P et al. (2000) Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis.

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3.

Dursun A et al. (2001) Mutation analysis in Turkish patients with hereditary fructose intolerance.

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4.

Esposito G et al. (2002) Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

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5.

Davit-Spraul A et al. (2008) Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

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6.

Sebastio G et al. (1991) Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

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7.

Brooks CC et al. (1991) Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

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8.

Cross NC et al. (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance.

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9.

Esposito G et al. (2010) Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

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10.

Kajihara S et al. (1990) Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

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11.

Cross NC et al. (1990) A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

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12.

Dazzo C et al. (1990) Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

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13.

Cross NC et al. (1990) Partial aldolase B gene deletions in hereditary fructose intolerance.

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14.

Cross NC et al. (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.

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15.

Paolella G et al. (1987) Mapping of a restriction fragment length polymorphism within the human aldolase B gene.

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16.

Munnich A et al. (1985) Dietary and hormonal regulation of aldolase B gene expression.

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17.

Henry I et al. (1985) The structural gene for aldolase B (ALDB) maps to 9q13----32.

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18.

Tolan DR et al. (1986) Characterization of the human aldolase B gene.

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19.

Paolella G et al. (1986) Human aldolase B cDNA detects a Pvu II RFLP in healthy individuals.

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20.

Cross NC et al. (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

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21.

Hibi N et al. (1986) Human monoclonal antibody recognizing liver-type aldolase B.

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22.

Nordmann Y et al. (1968) A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.

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23.

Kranhold JF et al. (1969) Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.

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24.

Rottmann WH et al. (1984) Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.

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25.

Pilz A et al. (1993) Linkage mapping of the Aldo-2, Pax-5, Ambp, and D4h9S3E loci on mouse chromosome 4 in the region of homology with human chromosome 9.

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26.

Ali M et al. (1995) Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

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27.

Ali M et al. (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

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28.

Brooks CC et al. (1993) Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

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29.

Tolan DR et al. (1995) Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

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30.

Jaeken J et al. (1996) Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

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31.

Ali M et al. (1998) Hereditary fructose intolerance.

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