attomol^® Lactose intolerance -13910C>T Quicktype

The assay attomol^® Lactose Intolerance -13910C>T Quicktype is used for the supportive diagnosis of lactose intolerance. This test can be used to determine the transition -13910C>T (rs4988235) in the regulatory range of  the  human  lactase  gene  (MCM6  gene).  It  is a  manual,  qualitative  assay  using  an  allel-specific  PCR  with integrated  probe  hybridisation.  The  evaluation  takes  place  by  agarose  gel  electrophoresis,  which  can  be carried out manually or automatically. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

The  uptake  of  milk  or  other  lactose-containing  foods  causes  intolerances  in  some  adults.  These  are  often assigned to the syndrome of primary (congenital) lactose intolerance (LIT) manifested in adulthood. The most frequent symptoms are lactose maldigestion, meteorism (tympanites), distension and diarrhoea [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23]. Lactose  tolerance  may  be  caused  by  an  activating  mutation  in  the  MCM6  gene  (minichromosome maintenance gene) on chromosome 2, near the lactase gene (lactase phlorizin hydrolasis gene, LPH gene). Activating  mutation  denotes  that  carriers  of  this  mutation  have  a  biological  advantage  over  non-mutation carriers. In the case of the mutation to be determined with this test kit, a base exchange from C to T takes place  at  position  -13910  upstream  of  the  lactase  gene.  Homozygous  carriers  of  the  mutation  (-13910T/T) having a lifelong lactose tolerance. In heterozygous carriers it is presumed that the inactivity of one allele may be partially compensated [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23; Sibley, 2004, Am J Pharmacogenomics, 4(4):239-245]. The presence of the wild type causes reduced lactase activity, which decreases even further with increasing age.  As  a  consequence  of  the  reduced  lactase  activity  lactose  is  not  cleaved  effectively  into  the monosaccharides glucose and galactose. Because not cleaved lactose cannot be reabsorbed by the human organism the symptoms mentioned above can typically be found [Srinivasan and Minocha, 1998, Postgraduate Medicine, 104(3):109-111, 115-116, 122-123]. The  loss  of  lactase  activity  usually  starts  after  ablactation  phase  and  ends  in  adult  in  the  state  of  lactose intolerance.  The  prevalence  of  the  lactose  intolerance  varies  worldwide  strongly  between  different  ethnical groups. In the European population (Caucasian parentage), with a prevalence of less than 30 %, the lactoseintolerance is not widely distributed [Sahi, 1994, Scand J Gastroenterol, 202(29):7-20]. In Austria for example, 20-25 % of the people suffer from the primary adult lactose intolerance [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23].

• PCR-H₂O
• PCR-buffer I
• Primer LIT -13910C>T
• instructions for use

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