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


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).


CONCLUSIONS
C/T(-13910) polymorphism detection may be a new tool for primary hypolactasia diagnosis.
Mattar
Rejane
R
Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, SP, Brazil. rmattar@hcnet.usp.br
Monteiro
Maria do Socorro
Mdo S
Villares
Cibele Aparecida
CA
dos Santos
Aníbal Ferreira
AF
Carrilho
Flair José
FJ
D000328:Adult; D000368:Aged; D001944:Breath Tests / Q000379:methods; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D043322:Lactase / Q000235:genetics*; D007787:Lactose Intolerance / Q000175:diagnosis / Q000235:genetics*; D007789:Lactose Tolerance Test / Q000379:methods; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D043322:Lactase