Genotyping of the Lactase-Phlorizin Hydrolase −13910 Polymorphism by LightCycler PCR and Implications for the Diagnosis of Lactose Intolerance
| Autor: | Markus Stöcher, Herbert Stekel, Gerd Bodlaj, Rainer Hubmann, Georg Biesenbach, Peter Hufnagl, Jörg Berg |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Adolescent Genotype medicine.medical_treatment Clinical Biochemistry Biology Polymerase Chain Reaction chemistry.chemical_compound Lactose Intolerance medicine Humans Lactase-Phlorizin Hydrolase Lactose Genotyping Aged Retrospective Studies Lactase-phlorizin hydrolase Aged 80 and over Lactose intolerance Polymorphism Genetic Biochemistry (medical) Lactase Middle Aged medicine.disease Molecular biology Genotype frequency Breath Tests chemistry Population study Female |
| Zdroj: | Clinical Chemistry. 52:148-151 |
| ISSN: | 1530-8561 0009-9147 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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