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

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

Rejane Mattar  1 , Maria do Socorro Monteiro, Cibele Aparecida Villares, Aníbal Ferreira dos Santos, Flair José Carrilho
Affiliations
Comparative Study

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

Rejane Mattar et al. Clin Biochem. 2008 May.

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.

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