gb GENETIC LACTO

• kit requires manual preparation of reagents and samples which are then analysed on real-time PCR cycler instrument
• intended for testing in Caucasian population
• intended for laboratory professional use by trained healthcare professionals
• detection of LCT (C13910T) and LCT (G22018A) polymorphisms serves as an aid to diagnosis of patients with suspected pathological state caused by a disorder of lactose metabolism

Clinical implications

Genetically determined lactose intolerance is a disorder of the metabolism of lactose (milk sugar) caused by decreased production of the lactase enzyme. Under usual conditions small intestinal cells produce lactase, which decomposes lactose into simpler sugars – glucose and galactose. These are then absorbed by the wall of the small intestine, getting into the bloodstream, and serves as an energy source. In case of lactose intolerance the undigested lactose is accumulated in the intestine and then decomposed by intestinal bacteria. Gastrointestinal symptoms include diarrhea, abdominal discomfort, stomach cramps or bloating as a result of lactose degradation. In Europe, lactose intolerance is associated with two mutations in the regulatory region of the gene LCT at positions -13910 and -22018. This gene is responsigb ble for the level of the enzyme lactase. In the presence of alleles LCT -13910C and LCT -22018G the activity of lactase gene is much lower, which leads to lactase non-persistence. Haplotype LCT -13910T and -22018A are conversely associated with lactase persistence.