Sickle gene. Its origin and diffusion from West Africa.

J G Mears; H M Lachman; R Cabannes; K P Amegnizin; D Labie; R L Nagel

doi:10.1172/JCI110294

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Published in Volume 68, Issue 3 on September 1, 1981
J Clin Invest. 1981;68(3):606–610. https://doi.org/10.1172/JCI110294.
© 1981 The American Society for Clinical Investigation

Published September 1, 1981 - Version history

Linked DNA polymorphisms can be used to study the evolution of structural gene mutations. Both the beta S-(beta 6Glu leads to Val) and beta C-(beta 6Glu leads to Lys) genes are common in West Africa. We have analyzed their linkage to a polymorphic Hpa 1 site appearing 3' to the beta-globin gene locus in selected populations from Wes Africa. A large reservoir of beta A-genes linked to 13-kilobase Hpa 1 fragments with a frequency of 17-18% has been identified. In addition, the beta S- and beta C-genes in Togo are found to be tightly linked to the 13-kilobase Hpa 1 fragment, whereas 72% of the beta S-genes in the Ivory Coast reside on the 7.6-kilobase Hpa 1 fragment. These studies are consistent with the selection and expansion of two different chromosomes bearing beta S-genes in at least two physically close, but ethnically separate regions of West Africa, with subsequent diffusion to North, Equatorial, and East Africa.

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