Lactose intolerance DNA

A DNA variant upstream of the lactase-phlorizin hydrolase gene is associated with lactose intolerance.

By | January 15, 2002

Lactose intolerance (lactase non-persistence) is the inability to digest the sugar (lactose) present in dairy products and is caused by a decline in the epithelial production of lactase-phlorizin hydrolase (LPH) in the small intestine. No DNA variation correlating to this lactase non-persistence exists for this enzyme, but in January 14 online Nature Genetics, Nabil Sabri Enattah and colleagues from University of Helsinki, Finland, show that a DNA variant exists upstream of the LCT gene encoding LPH that does associate with the disorder.

Enattah et al. performed a sequence analysis and found a DNA variant, C/T–13910, on 2q21 that completely associates with lactose intolerance in Finnish families and a sample set of 236 individuals from four different populations. They also found a second variant, G/A–22018, 8 kb telomeric to C/T–13910, which is also associated with the trait in 229 of 236 cases (Nat Genet 2002, DOI 10.1038/ng826). In addition, since the C/T–13910 variant occurs in distantly related populations, it would seem to be very old.

These data could be useful in the development of reliable, non-invasive diagnostic tests for lactose intolerance, concluded the authors.

Popular Now

  1. Top 10 Innovations 2016
    Features Top 10 Innovations 2016

    This year’s list of winners celebrates both large leaps and small (but important) steps in life science technology.

  2. Gut Microbes Linked to Neurodegenerative Disease
  3. Pubic Hair Grooming Linked to STI Risk
    The Nutshell Pubic Hair Grooming Linked to STI Risk

    Observational study suggests pubic hair grooming correlates with heightened risk of acquiring sexually transmitted infections, although causation remains unclear.

  4. Naive T Cells Find Homes in Lymphoid Tissue
Rockland