Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
With the MCM6 gene, no disease has been associated yet though polymorphisms in the non-coding region are associated with Lactase persistance/nonpersistance. Lactase nonpersistance may be associated with irritable bowel disease.
| 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. (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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| 3. |
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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| 4. |
Olds LC et al. (2011) 13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1.
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| 5. |
Groth A et al. (2007) Regulation of replication fork progression through histone supply and demand.
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| 6. |
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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| 7. |
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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| 8. |
Enattah NS et al. (2007) Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
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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. |
Ingram CJ et al. (2007) A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
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| 11. |
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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| 12. |
Campbell CD et al. (2005) Demonstrating stratification in a European American population.
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| 13. |
Coelho M et al. (2005) Microsatellite variation and evolution of human lactase persistence.
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| 14. |
Bersaglieri T et al. (2004) Genetic signatures of strong recent positive selection at the lactase gene.
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| 15. |
Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.
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| 16. |
NCBI article NCBI 4175
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| 17. |
OMIM.ORG article Omim 601806
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| 18. |
Wikipedia article Wikipedia EN (MCM6)
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