J Med Genet 44:e89 doi:10.1136/jmg.2007.051631
  • Online mutation report

The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population

  1. F Imtiaz1,
  2. E Savilahti2,
  3. A Sarnesto2,
  4. D Trabzuni1,
  5. K Al-Kahtani1,
  6. I Kagevi1,
  7. M S Rashed1,
  8. B F Meyer1,
  9. I Järvelä3,4
  1. 1King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
  2. 2Hospital for Children and Adolescents, University of Helsinki, Finland
  3. 3Laboratory of Molecular Genetics, Helsinki University Central Hospital, Laboratory Services, Helsinki, Finland
  4. 4Department of Medical Genetics, University of Helsinki, Helsinki, Finland
  1. Correspondence to:
 Dr Irma Järvelä
 University of Helsinki, Department of Medical Genetics, Haartmaninkatu 8, PO Box 63, FIN-00290 Helsinki, Finland; irma.jarvela{at}
  • Received 11 May 2007
  • Accepted 13 July 2007
  • Revised 1 July 2007


Background: The prevalence of lactase persistence is high in Saudi Arabia.

Objective: To identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia.

Methods: We sequenced DNA from 432 anonymous neonatal blood donors from five different regions of Saudi Arabia to cover the 400 bp region surrounding the previously identified lactase persistence/non-persistence variant C/T−13910 residing in intron 13 of the MCM6 gene.

Results: Two anonymous blood donors carried the C/T−13910 genotype. One variant, T/G −13915, residing 5 bp upstream of the C/T−13910 variant, was present in 332 of 432 (76.9%) of the neonatal samples, compatible with previous prevalence figures of lactase persistence in urban Saudi populations. Determination of disaccharidase activities in 25 intestinal biopsy samples showed a highly significant correlation between lactase activity and the T/G−13915 genotypes (p<0.001; Fisher exact test) as well as between the L:S ratio and the aforementioned genotypes (p<0.001; Fisher exact test).

Conclusion: The T/G−13915 variant is the founder mutation of lactase persistence in an urban Saudi population. The results obtained here have implications for genetic testing of adult-type hypolactasia and to analysis of human evolution, the origin of cattle domestication and migrations of the populations in the Arabian peninsula.


  • Competing interests: None declared.