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MC006 Lactase Persistence Genotyping 2

Melt Assay SALSA MC006 Lactase Persistence 2 detects single nucleotide polymorphisms (SNPs) associated with lactase persistence that are located upstream of the lactase gene LCT.

Specifications

Contents: kit for the detection of SNPs upstream of LCT, including probemix and reagents.

Tissue: human genomic DNA isolated from blood or saliva, or crude lysate from buccal swabs.

Application: research on lactase persistence.

For research use only (RUO). Not for use in diagnostics.

SALSA MC005 Lactase Persistence Genotyping 1 extends the assay's detection capability for SNPs located upstream of LCT. Depending on the population being tested, use of this product may be recommended or required. Compare MC005 and MC006.

General information

The Melt Assay SALSA MC006 Lactase Persistence Genotyping 2 is a research use only (RUO) semi-quantitative assay for the detection or confirmation of single nucleotide polymorphisms (SNPs) -13907 C>G (rs41525747), -13910 C>T (rs4988235), -13915 T>G (rs41380347), -14009 T>G (rs869051967)* and -14010 G>C (rs145946881) within intron 13 of the MCM6 gene, located upstream of the lactase gene (LCT).

*Only detectable when used in combination with SALSA MC005 Lactase Persistence Genotyping 1.

The ability to digest milk depends on the enzyme lactase-phlorizin hydrolase (LPH, commonly referred to as lactase), which hydrolyses lactose, the primary carbohydrate in milk. In most humans, lactase expression declines sharply after the weaning period—a trait known as lactase non-persistence (LNP). While LNP itself is a normal genetic trait, it can lead to gastrointestinal symptoms such as abdominal pain, diarrhoea, and bloating when lactose is consumed; this symptomatic response is commonly referred to as lactose intolerance. In contrast, some individuals retain high levels of lactase activity into adulthood, allowing them to digest lactose efficiently. This heritable autosomal dominant trait is known as lactase persistence (LP).

LP is associated with specific single nucleotide polymorphisms (SNPs) located near the LCT gene, which encodes the lactase enzyme. The LCT gene is situated on chromosome 2q21, while the relevant SNPs are found approximately 13.9–14.0 kb upstream, within intron 13 of the MCM6 gene. This region functions as a cis-regulatory element that enhances LCT gene expression. Several polymorphisms within this region of MCM6 are associated with LP (Anguita-Ruiz et al., 2020). The wildtype (WT) sequence refers to the genotype conferring LNP.

More information is available at http://omim.org/entry/601806 and http://omim.org/entry/223100.

Regulatory status

SALSA MC006 Lactase Persistence Genotyping 2 is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
MC006-100R
SALSA MC006 Lactase Persistence Genotyping 2 – 100 rxn
€ 400.00
MC006-1000R
SALSA MC006 Lactase Persistence Genotyping 2 – 1000 rxn
€ 3750.00
MC005-100R + MC006-100R
Combi deal : SALSA MC005 Lactase Persistence Genotyping 1 – 100 rxn + SALSA MC006 Lactase Persistence Genotyping 2 – 100 rxn
€ 800.00 € 700.00
MC005-1000R + MC006-1000R
Combi deal : SALSA MC005 Lactase Persistence Genotyping 1 – 1000 rxn + SALSA MC006 Lactase Persistence Genotyping 2 – 1000 rxn
€ 7500.00 € 6,500.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Comparison of MC005 and MC006

The table below summarizes the use of MC005 and MC006 for the detection and confirmation of specific SNPs, indicating the application of each assay and when both assays are required for SNP characterization. Information on the occurrence of these SNPs in specific populations is indicated as well. For further details, please refer to the instructions for use.

SNP ID (rs) Major>minor Population frequency MC005 MC006
-13907 rs41525747 C>G Afro-Asiatic Beja (~20%)
(Tishkoff et al. 2007)
Detection Confirmation
-13910 rs4988235 C>T European (up to 70%)
(Guimarães Alves et al. 2021)
Detection Detection
-13915 rs41380347 T>G Arab (up to 50%)
(Ingram et al. 2007)
Outside detection range Detection
-14009 rs869051967 T>G Sudanese, Ethiopian, and Somali (variable frequencies)
(Ranciaro et al. 2014)
Co-detection with MC006 required Co-detection with MC005 required
-14010 rs145946881 G>C East African (~27%)
(Tishkoff et al. 2007)
Detection Confirmation

Publications

References

  • Anguita-Ruiz A et al. (2020). Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies. Nutrients. 12:2689.
  • Guimarães Alves AC et al. (2021). Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas. Front Genet. 12:671079.
  • Ingram CJE et al. (2007). A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence? Hum Genet. 120:779-88.
  • Ranciaro A et al. (2014). Genetic origins of lactase persistence and the spread of pastoralism in Africa. Am J Hum Genet. 94:496-510.
  • Tishkoff SA et al. (2007). Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet. 39:31-40.

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