LCT-Gen (lactose intolerance)

EUROArray Lactose Intolerance Direct

Auswertung mittels EUROArrayScan

Primary lactose intolerance is based on a genetically caused deficiency of the digestive enzyme lactase in the intestine, which is responsible for the cleavage of the disaccharide lactose into its sugar monomers glucose and galactose. Unsplit lactose is fermented by bacteria in the ileum and the large intestine, resulting in fermentation products which cause digestive disorders and the typical symptoms of lactose intolerance. Around 20 % of Europeans and almost 100 % of the population in large parts of Asia and in the south of Africa have lactose intolerance. However, mutations which lead to a permanently increased lactase production and consequently to a tolerance to lactose (lactase persistence) can also occur.

The two most frequent mutations associated with primary lactose intolerance are the polymorphisms 13910 C/T and 22018 G/A, which are localised in the promoter region of the lactase (LCT) gene. According to the current state of knowledge, homozygous carriers of 13910 C/C and 22018 G/G develop symptoms of lactose intolerance, while heterozygous carriers of 13910 C/T and 22018 G/A only present symptoms in situations of stress or with intestinal infections. Homozygous carriers of 13910 T/T and 22018 A/A are lactase persistent and do not show any symptoms.

Since there is not only the genetically caused (primary) form of lactose intolerance (below 50% lactase activity), but also secondary lactose intolerance, which can usually be overcome within some months, it is important for patients to clarify the exact cause of the disease.

The EUROArray Lactose-Intolerance Direct has been optimised for reliable detection of the most important genetic risk factors for primary lactose intolerance. It is extremely easy to perform. Owing to the unique direct procedure, the DNA no longer needs to be isolated. The blood sample is treated with two extraction reagents and can then be used directly in the PCR. The PCR primer and microarray probes have been selected and optimised in such way that the polymorphisms 13910 C/T and 22018 G/A mentioned above are clearly detected. Data analysis, data interpretation, and electronic archiving are fully automated using the EUROArrayScan Software. In the case of a positive result for a mutation, differentiation between homozygous and heterozygous presence is included in the result. The EUROArray Lactose Intolerance Direct also ensures highest result reliability for rarely occurring genotypes. For this, the test system incorporates unique controls that detect further mutations in the direct vicinity of the investigated sequence variants which might affect the binding to the probes and hence the determination.

ProductOrder no.
EUROArray Lactose Intolerance DirectMN 5351-V