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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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.

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)...

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Microsoft Word - Acta_TZ_9_3_2010

Lactase-phlorizin hydrolase (LCT), more commonly known as lactase, is an enzyme responsible for cleaving lactose into absorbable monosaccharides, glucose and galactose. LCT deficiency (hypolactasia – HL) is caused by a decreased activity of LCT in the small intestinal villi and potentially results in lactose malabsorption what may lead to the development of clinical symptoms (diarrhea, bloating...

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ژورنال

عنوان ژورنال: Brazilian Journal of Medical and Biological Research

سال: 2007

ISSN: 0100-879X

DOI: 10.1590/s0100-879x2007001100004