Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice

Rejane Mattar; Maria do Socorro Monteiro; Cibele Aparecida Villares; Aníbal Ferreira dos Santos; Flair José Carrilho

doi:10.1016/j.clinbiochem.2008.01.006

Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice

Clin Biochem. 2008 May;41(7-8):628-30. doi: 10.1016/j.clinbiochem.2008.01.006. Epub 2008 Jan 16.

Authors

Rejane Mattar¹, Maria do Socorro Monteiro, Cibele Aparecida Villares, Aníbal Ferreira dos Santos, Flair José Carrilho

Affiliation

¹ Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, SP, Brazil. rmattar@hcnet.usp.br

PMID: 18237552
DOI: 10.1016/j.clinbiochem.2008.01.006

Abstract

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't
Validation Study

MeSH terms

Adult
Aged
Breath Tests / methods
Female
Genetic Variation / genetics
Humans
Lactase / genetics*
Lactose Intolerance / diagnosis
Lactose Intolerance / genetics*
Lactose Tolerance Test / methods
Male
Middle Aged
Polymorphism, Single Nucleotide / genetics*
Reverse Transcriptase Polymerase Chain Reaction / methods

Substances

Lactase