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Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice |
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| Authors: | Mattar Rejane Monteiro Maria do Socorro Villares Cibele Aparecida dos Santos Aníbal Ferreira Carrilho Flair José |
| Affiliation: | aDepartment of Gastroenterology, University of São Paulo School of Medicine, São Paulo, SP, Brazil |
| Abstract: | ObjectivesTo validate C/T-13910 polymorphism associated with primary hypolactasia for clinical practice.Design and methodsLactose breath test and PCR-RFLP for the C/T-13910 polymorphism were performed.ResultsTwenty-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).ConclusionC/T-13910 polymorphism detection may be a new tool for primary hypolactasia diagnosis. |
| Keywords: | Hypolactasia Lactase persistence Lactose malabsorption Single nucleotide polymorphism Hydrogen breath test |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |