Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice
- MATTAR, Rejane
- MONTEIRO, Maria do Socorro
- VILLARES, Cibele Aparecida
- SANTOS, Anibal Ferreira dos
- CARRILHO, Flair Jose
Publication date
January 2008
DOI Publisher
PERGAMON-ELSEVIER SCIENCE LTD ISSN
0009-9120 Journal
0009-9120 Citation count (estimate)
33Abstract
Objectives: To validate C/T-13910 polymorphism associated with primary hypolactasia for clinical practice. Design and methods: Lactose breath test and PCR-RFLP for the C/T-13910 polymorphism were performed. Results: Twenty-seven of 28 patients with genotype CC had positive breath tests, all twenty-two patients with genotypes CT or TT had negative breath tests. Agreement of tests was high (p<0.0001; Kappa Index 0.96). Conclusion: C/T-13910 polymorphism detection may be a new tool for primary hypolactasia diagnosis. (C) 2008 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved
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