Non-Random Association of the ma I Polymorphic Site 5′ to the β-Globin Gene with Major Sickle Cell Haplotypes

Abstract

There are three main African haplotypes associated with the sickle mutation on chromosome 11. We have examined an Rsa I polymorphism 550 bp 5′ to the beta-globin gene to study the degree of linkage disequilibrium between this Rsa I site and the three haplotypes. This Rsa I site is contained within the 10.3 kb or less area of randoization separating the 5′-and 3′-haplotype clusters. The β^S-containing chromosomes of the Benin and Senegal haplotypes are not cut, while those of the Central African Republic are cleaved by Rsa I at this site. Possible explanations of these findings are discussed.