Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Galactose-1-Phosphate-Uridylyltransferase

Das GALT-gen kodiert eine Enzym des Glaktosemetabolismus. Mutationen führen zur autosomal rezessiven Galaktosämie.

Diagnostik:

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

Krankheiten:

Galactosämie
GALT

Referenzen:

1.

None (1979) Abstracts of meeting presentations.

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2.

Mohandas T et. al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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3.

Westerveld A et. al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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4.

Mohandas T et. al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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5.

Mohandas T et. al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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6.

Meera Khan P et. al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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7.

Sun NC et. al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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8.

Scherz R et. al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

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9.

Reichardt JK et. al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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10.

Reichardt JK et. al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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11.

Reichardt JK et. al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

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12.

Flach JE et. al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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13.

Reichardt JK et. al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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14.

Tedesco TA et. al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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15.

Sun NC et. al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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16.

Bergren WG et. al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

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17.

Vaccaro AM et. al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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18.

Shih LY et. al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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19.

Sparkes RS et. al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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20.

Mulcahy MT et. al. (1980) Where is the gene for GALT?

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21.

Sparkes RS et. al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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22.

Kelley RI et. al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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23.

Xu YK et. al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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24.

Ashino J et. al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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25.

Lin HC et. al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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26.

Elsas LJ et. al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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27.

Elsas LJ et. al. (1994) A common mutation associated with the Duarte galactosemia allele.

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28.

Reichardt JK et. al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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29.

Lai K et. al. (1996) A prevalent mutation for galactosemia among black Americans.

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30.

Ninfali P et. al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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31.

Podskarbi T et. al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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32.

Elsevier JP et. al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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33.

Langley SD et. al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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34.

Greber-Platzer S et. al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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35.

Magrangeas F et. al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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36.

Tyfield L et. al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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37.

Kozák L et. al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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38.

Murphy M et. al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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39.

Elsas LJ et. al. () The molecular biology of galactosemia.

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40.

Elsas LJ et. al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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41.

Trbusek M et. al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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42.

Suzuki M et. al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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43.

Carney AE et. al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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44.

Tang M et. al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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