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
In: Brazilian Journal of Medical and Biological Research v.40 n.11 2007 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Brazilian Journal of Medical and Biological Research, Volume: 40, Issue: 11, Pages: 1441-1446, Published: NOV, Jg. 40 (2007), Heft 11, S. 1441-1446
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Zugriff:
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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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
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Autor/in / Beteiligte Person: | Fernanda dos Santos de Oliveira ; Helena Ayako Sueno Goldani ; Ursula da Silveira Matte ; Rafael Bueno Mazzuca ; Themis Reverbel da Silveira ; Andréia Cristina da Silva Bulhões |
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Zeitschrift: | Brazilian Journal of Medical and Biological Research v.40 n.11 2007 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Brazilian Journal of Medical and Biological Research, Volume: 40, Issue: 11, Pages: 1441-1446, Published: NOV, Jg. 40 (2007), Heft 11, S. 1441-1446 |
Veröffentlichung: | Associação Brasileira de Divulgação Científica, 2007 |
Medientyp: | unknown |
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