Non-random association of the Rsa I polymorphic site 5' to the beta-globin gene with major sickle cell haplotypes

Hemoglobin. 1988;12(2):115-24. doi: 10.3109/03630268808998018.

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 randomization separating the 5'- and 3'-haplotype clusters. The beta 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.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Sickle Cell / ethnology
  • Anemia, Sickle Cell / genetics*
  • Benin
  • Central African Republic
  • Chromosomes, Human, Pair 11*
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific*
  • Globins / genetics*
  • Humans
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Senegal

Substances

  • Globins
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific
  • GTAC-specific type II deoxyribonucleases