Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lactasemangel
LCT

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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.

external link
5.

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.

external link
6.

None (2005) Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.

external link
7.

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

external link
8.

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.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

NCBI article

NCBI 3938 external link
18.

OMIM.ORG article

Omim 603202 external link
19.

Orphanet article

Orphanet ID 123008 external link
20.

Wikipedia Artikel

Wikipedia DE (Lactase) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz