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Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia

Bulhões, A.C.; Goldani, H.A.S.; Oliveira, F.S.; Matte, U.S.; Mazzuca, R.B.; Silveira, T.R.

Brazilian Journal of Medical and Biological Research 40(11): 1441-1446

2007

ISSN/ISBN: 0100-879X
PMID: 17934640
Document Number: 608540
The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase ( LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test ( HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose ( equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes ( lactase persistence) were found in 10 individuals with negative HBT. The CC/GG genotype ( lactase non-persistence) was found in 10 individuals, 9 of them with positive HBT results. There was a significant agreement between the presence of mutations in the LCT gene promoter and HBT results ( kappa = -0.9, P < 0.001). The CT/AA genotype has not been described previously and seems to be related to lactase persistence. The present study showed a significant agreement between the occurrence of mutations G/A-22018 and C/T-13910 and lactose absorption in Brazilian subjects, suggesting that the molecular test used here could be proposed for the laboratory diagnosis of adult-type primary hypolactasia.

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