Osteogenesis imperfecta type III: an ancient mutation in Africa?
In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high gene frequency for this disorder. Both tribes were derived from common progenitors, but until 150 years ago had been geographically separated for 2 millenia. Subsequently, they have remained culturally and socially distinct. The implications are that the mutation for OI III in Africa occurred at least 2,000 years ago.
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
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D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D015030:Zimbabwe