Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions

Am J Med Genet A. 2012 Oct;158A(10):2629-40. doi: 10.1002/ajmg.a.35551. Epub 2012 Aug 17.


Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive disorders is higher than in other known populations. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size. Founder mutations have been recognized in many autosomal recessive disorders, many of which are overrepresented within certain tribes. On the other hand, allelic heterogeneity is also observed among common and rare autosomal recessive conditions. With the adoption of more advanced molecular techniques in the country in recent years in conjunction with international collaboration, the mapping of various autosomal recessive disorders has increased dramatically. Different genetic concepts pertinent to this highly inbred population are discussed here. Addressing such genetic disorders at the national level will become a cornerstone of strategic health care initiatives in the 21st century. Current efforts are hampered by many socio-cultural and health care related factors. Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign.

MeSH terms

  • Consanguinity
  • Founder Effect
  • Genes, Recessive*
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / prevention & control*
  • Genetic Testing
  • Humans
  • Prevalence
  • Saudi Arabia / epidemiology