Clinical Chemistry AACC Online Job Center
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 52: 148-151, 2006; 10.1373/clinchem.2005.057240
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Data Supplements
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (14)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Bodlaj, G.
Right arrow Articles by Berg, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bodlaj, G.
Right arrow Articles by Berg, J.
Related Collections
Right arrow Molecular Diagnostics and Genetics
(Clinical Chemistry. 2006;52:148-151.)
© 2006 American Association for Clinical Chemistry, Inc.

Technical Briefs

Genotyping of the Lactase-Phlorizin Hydrolase –13910 Polymorphism by LightCycler PCR and Implications for the Diagnosis of Lactose Intolerance

Gerd Bodlaj1,2,1, Markus Stöcher1,1, Peter Hufnagl3, Rainer Hubmann2, Georg Biesenbach2, Herbert Stekel1 and Jörg Berg1,a

1 Institute of Laboratory Medicine and2 Department of Medicine II, General Hospital Linz, Linz, Austria3 Roche Diagnostics, Engelhorngasse, Vienna, Austria

aaddress correspondence to this author at: Institute of Laboratory Medicine, General Hospital Linz, Krankenhausstrasse 9, A-4020 Linz, Austria; fax 43-732-7806-1815, e-mail joerg.berg{at}akh.linz.at


Abstract

Background: Hypolactasia and lactose intolerance are common conditions worldwide. Hypolactasia seems to be strongly correlated with genotype C/C of the genetic variant C->T–13910 upstream of the lactase phlorizin hydrolase (LPH) gene. We developed a rapid genotyping assay for LPH C->T–13910 and investigated the relationship of positive lactose breath hydrogen test (LBHT) results suggesting lactose intolerance with LPH C->T–13910 genotype.

Methods: Using automated DNA purification on the MagNA Pure LC and real-time PCR on the LightCycler, we examined samples from 220 individuals to estimate genotype frequencies; we then determined LPH C->T–13910 genotype in samples from 54 Caucasian patients with a positive LBHT result and symptoms of lactose intolerance.

Results: Genotyping of 220 individuals revealed frequencies of 21.4%, 41.8%, and 36.8% for genotypes C/C, C/T, and T/T. Of the patients with positive LBHT results, only 50% had the C/C genotype suggestive of primary adult hypolactasia in our study population. The other patients had various degrees of secondary hypolactasia or symptoms of lactose intolerance. Patients with C/C genotype had a mean (SD) peak H2 increase in the LBHT [108 (58) ppm] that was significantly higher than in patients with the C/T [65 (54) ppm] and T/T [44 (34) ppm] genotypes.

Conclusions: The new real-time PCR assay provides a rapid, labor-saving means for the genotyping of LPH C->T–13910. Use of the assay may assist in differentiating patients with primary hypolactasia from those with secondary hypolactasia and lactose intolerance, who may need further clinical examinations to diagnose their underlying primary diseases.




The following articles in journals at HighWire Press have cited this article:


Home page
 BloodHome page
H. Hauser, O. Zach, O. Krieger, H. Kasparu, J. Koenig, M. Girschikofsky, R. Oberbauer, and D. Lutz
A single nucleotide polymorphism at chromosome 2q21.3 (LCT -13910C>T) associates with clinical outcome after allogeneic hematopoietic stem cell transplantation
Blood, September 1, 2008; 112(5): 2156 - 2159.
[Abstract] [Full Text] [PDF]

Home page
 Ann Clin BiochemHome page
J. P Waud, S. B Matthews, and A. K Campbell
Measurement of breath hydrogen and methane, together with lactase genotype, defines the current best practice for investigation of lactose sensitivity
Ann Clin Biochem, January 1, 2008; 45(1): 50 - 58.
[Abstract] [Full Text] [PDF]

Home page
 GutHome page
P U. Satta, M Congia, E Schirru, M Scarpa, and G Mura
Genetic testing is ready to change the diagnostic scenario of lactose malabsorption
Gut, January 1, 2008; 57(1): 137 - 138.
[Full Text] [PDF]

Home page
 J Biomol ScreenHome page
A. Piepoli, E. Schirru, A. Mastrorilli, A. Gentile, R. Cotugno, M. Quitadamo, A. Merla, M. Congia, P. U. Satta, and F. Perri
Genotyping of the Lactase-Phlorizin Hydrolase C/T-13910 Polymorphism by Means of a New Rapid Denaturing High-Performance Liquid Chromatography-Based Assay in Healthy Subjects and Colorectal Cancer Patients
J Biomol Screen, August 1, 2007; 12(5): 733 - 739.
[Abstract] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2006 by the American Association for Clinical Chemistry.