Lactose Intolerance (PCR)

Detect your
individual
genotype …

… by PCR analysis
 Analysis of the LPH gene as an important tool for the differential
diagnosis of primary (= genetic) lactose intolerance
 Fast and reliable detection of the T/C polymorphism in the
LPH gene (-13910) with real time PCR
 Sample material: genomic DNA (e. g. extracted from whole blood
or swabs)

Clinical Relevant

C /C

T/T
Fluorescence

T/C

Temperature in °C

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Lactose intolerance (PCR)
Analysis of the LPH gene as an important tool for the differential diagnosis of
primary (= genetic) lactose intolerance

People with lactose intolerance are not able to digest dietary milk sugar. These patients show malabsorption
symptoms like nausea, flatulence, diarrhoea or stomach pain. In addition, symptoms like dizziness, insomnia, skin
irritation or depression can be caused by lactose intolerance. Differential diagnosis is often neglected and patients are
frequently diagnosed with psychosomatic problems. Patients exhibiting these symptoms should hence be analysed
for genetic lactose intolerance - in particular if no other obvious reasons lead to a definite diagnosis. The therapy for
the afflicted person is very easy and consists of a lactose-free diet.
The most important reason for lactose intolerance is a genetically caused lack of the enzyme lactase phlorizin
hydrolase (LPH) which is responsible for the degradation of milk sugar [1]. This common gene defect is very easy to
detect by the analysis of the T/C base pair replacement at position -13910 from the regulatory region of lactase
phlorizin hydrolase gene [2, 3]. If this exchange is homozygous for the C-allel, a lactase-deficiency is predetermined
and subsequently the risk for lactose intolerance is elevated. There is an excellent correlation between C/C-genotype
and positive results in the H2-breath test [4]. Although not all carriers of C/C-genotype will manifest lactose intole-
rance symptoms (because a fall short of individual level of LPH enzyme expression is necessary), the genetic analysis
of T/C-replacement will support differential diagnosis of this disease. Furthermore, in some cases lactose intolerance
can be due to secondary causes like mal-resorption problems (e.g. Morbus Crohn patients),
infections or e. g. a chemotherapy [3].

A fast and reliable detection of the -13910 T/C poly morphism in the LPH gene can be carried
out with our MutaREAL® Laktase. Sample material is genomic DNA (e. g. extracted from whole
blood or swabs). Since a genetically determined predisposition is detected, the analysis has to
be performed only once in life. The MutaPLATE® Laktase allows a fast and convenient detection
in real time instruments not working with melting curve method.

Literature:
[1] Buning C et al. (2003) C/C(-13910) and G/G (-22018) genotypes for adult-type hypolactasia are not associated with inflammmatory bowel
disease. Scand. J. Gastroenterol. 38(5): 538-542.
[2] Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia. Nat. Genet. 30(2): 233-237.
[3] Kuokkanen M et al. (2003) Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type
hypolactasia. Gut (52):647-652.
[4] Högenauer C (2005) Evaluation of a new DNA test compared with lactose hydrogen breath test for diagnosis of lactase non-persistence.
Eur J Gastroenterol Hepatol 17:371-376.

MutaREAL® Laktase MutaPLATE® Laktase (TM)

Matrix DNA ( (e. g. whole blood, cheek Matrix DNA ( (e. g. whole blood, cheek
swab) swab)

Sample volume 200 µl Sample volume 200 µl

Test prinicple real time PCR (capillary system) Test prinicple real time PCR (open systems)
Cat. No. KF2907196 Cat. No. KF1907296

MutaGEL® Laktase (AS)*

Matrix DNA ( (e. g. whole blood, cheek
swab)

Sample volume 200 µl

Immundiagnostik AG
Test prinicple PCR (allel specific)
FLMB 8 2018-10-01

Stubenwald-Allee 8a
Cat. No. KE09009 64625 Bensheim, Germany
* For research use only Phone: +49 (0)6251 701900
Fax: +49 (0)6251 849430
info@immundiagnostik.com
US: all products: Research Use Only. Not for use in diagnostic procedures. www.immundiagnostik.com