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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