Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Minichromosome Maintenance Complex 6

Mit dem MCM6-Gen sind bisher keine Erkrankungen assoziiert. Verschiedene Polymorphismen im nichtkodierenden Bereich sind für Regulation der Transkription der Laktase verantwortlich, so dass diese Polymorphismen die Fähigkeit Erwachsener steuert, die Lactose im Dünndarm zu spalten.

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:

Erwachsenentyp der Laktoseintoleranz
LCT
MCM6

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.

Mulcare CA et al. (2004) The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans.

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4.

Bersaglieri T et al. (2004) Genetic signatures of strong recent positive selection at the lactase gene.

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5.

Coelho M et al. (2005) Microsatellite variation and evolution of human lactase persistence.

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6.

Campbell CD et al. (2005) Demonstrating stratification in a European American population.

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7.

Lewinsky RH et al. (2005) T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

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8.

Ingram CJ et al. (2007) A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?

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9.

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

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10.

Enattah NS et al. (2007) Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.

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11.

Groth A et al. (2007) Regulation of replication fork progression through histone supply and demand.

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12.

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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13.

Olds LC et al. (2011) 13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1.

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14.

Jensen TG et al. (2011) The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity.

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15.

Harvey CB et al. (1996) Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5' end of the lactase gene on chromosome 2q21.

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