The biosynthetic basis of adult lactase deficiency.

Evaluation of a Genetic Test for Diagnose of Primary Hypolactasia in Northeast of Iran (Khorasan)

Objective(s) Primary or adult type hypolactasia, the most common enzyme deficiency in the world, is due to reduced lactase activity in the intestinal cell after weaning. Lactase non-persistence is inherited as an autosomal recessive trait. A DNA variant, single nucleotide polymorphism C/T−13910 which is located on 13910 base pairs (bp) upstream of the lactase gene (LCT) at chromosome 2 has been...

Did malaria select for primary adult lactase deficiency?

Molecular Genetics of Lactase Persistence

This thesis is based on the following original articles, which are referred to in the text by their Roman numerals. In addition, some unpublished data are presented Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Identification of a variant associated with adult-type hypolactasia. Transcriptional regul...

Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase.

Carbohydrates are hydrolyzed in the intestinal lumen by specific enzymes to monosaccharides before transport across the brush border membrane of epithelial cells into the cell interior. The enzymes implicated in the digestion of carbohydrates in the intestinal lumen are membrane-bound glycoproteins that are expressed at the apical domain of the enterocytes. Absent or reduced activity of one of ...

Hypolactasia: a common enzyme deficiency leading to lactose malabsorption and intolerance.

Adult‑type hypolactasia (lactase nonpersistence or lactase deficiency) is the most common enzyme deficiency leading to lactose intolerance and primary lactose malabsorption. Clinical presentation of the condition includes symptoms resulting from bacterial fermentation of undigested lactose in the colon, which gives rise to gas bloat, increased motility, and loose stools. Diagnosis of the diseas...