oa South African Medical Journal - Understanding the genetic diversity of South Africa's peoples - : editorial

Volume 105, Issue 7
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



The diverse nature of the peoples living in South Africa (SA) and their history has offered unique opportunities over the years to its researchers, particularly those working in the field of human and medical genetics. Many genetic conditions and/or genetic causative mutations have been demonstrated to have interesting population-specific distributions. This is well demonstrated by two articles in this issue of the . Apart from research opportunities, this diversity of genetic disease has major relevance when offering diagnostic testing. Frequencies of disease may differ between groups, and the mutational basis may be different. Unless clinicians and laboratories are aware of these differences, and offer testing appropriate to the origins of patients, inappropriate testing may be performed and important diagnoses may be missed. Different mutation-specific therapies may also be required in the future.

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