Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LCT gene encodes an enzyme that is located on the plasma membran. I cleaves the disaccharide lactose into galactose and glucose. Mutations of the gene cause autosomal recessive congenital lactose intolerance. Polymorphisms in the noncoding region of the neighboring MCM6 gene regulate gene expression.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Target mutation analysis |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
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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| 2. |
Harvey CB et al. (1993) Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21.
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| 3. |
Kruse TA et al. (1988) The human lactase-phlorizin hydrolase gene is located on chromosome 2.
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| 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.
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| 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.
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| 6. |
None (2005) Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.
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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. |
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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| 9. |
Harvey CB et al. (1998) Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism.
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| 10. |
Harvey CB et al. (1995) DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region.
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| 11. |
Hollox EJ et al. (2001) Lactase haplotype diversity in the Old World.
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| 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.
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| 13. |
Kuokkanen M et al. (2006) Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
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| 14. |
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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| 15. |
Tishkoff SA et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.
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| 16. |
Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.
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| 17. |
NCBI article NCBI 3938
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| 18. |
OMIM.ORG article Omim 603202
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| 19. |
Orphanet article Orphanet ID 123008
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| 20. |
Wikipedia article Wikipedia EN (Lactase)
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