Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lactase

Das LCT-Gen kodiert ein Verdauungsenzym, welches Lactose in Glucose und Galactose spaltet. Mutationen führen zur autosomal rezessiven Erkrankung der kongenitalen Lactoseintoleranz. Die Expression wird über verschiedene Polymorphismen im nichtkodierenden Bereich des benachbarten MCM6-Gens gesteuert.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Lactasemangel
LCT

Referenzen:

1.

Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.

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2.

Olds LC et al. (2003) Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

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3.

Tishkoff SA et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.

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4.

Enattah NS et al. (2008) Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.

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5.

Hollox EJ et al. (2001) Lactase haplotype diversity in the Old World.

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6.

van Wering HM et al. (2002) Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter.

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7.

Beja-Pereira A et al. (2003) Gene-culture coevolution between cattle milk protein genes and human lactase genes.

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8.

Hollox E et al. (2005) Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.

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9.

Kuokkanen M et al. (2006) Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

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10.

Boll W et al. (1991) Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase.

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11.

Mantei N et al. (1988) Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme.

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12.

Kruse TA et al. (1988) The human lactase-phlorizin hydrolase gene is located on chromosome 2.

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13.

Harvey CB et al. (1995) DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region.

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14.

Harvey CB et al. (1993) Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21.

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15.

Järvelä I et al. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

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16.

Harvey CB et al. (1998) Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism.

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