A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia

J Clin Invest. 1989 Jun;83(6):2070-3. doi: 10.1172/JCI114118.

Abstract

Cloning and sequencing of the gamma-globin gene of a sickle cell anemia patient homozygous for the Bantu haplotype has revealed a gene conversion that involves the replacement of an A gamma sequence by a G gamma sequence in the promoter area of the A gamma gene. This event is similar to another gene conversion believed to be responsible for the very high homology between gamma-globin genes, suggesting that the promoter area of these genes is prone to this type of genetic rearrangement. Further analysis demonstrated that the chromosome bearing this gene conversion has a very high frequency among Bantu chromosomes and a very low or nil frequency in other haplotypes linked to the beta s gene. No correlation was found between the G gamma/A gamma ratio and the presence of the gene conversion among Bantu haplotype patients, thus excluding a portion of the gamma gene sequence in the determination of this ratio.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Sickle Cell / genetics*
  • Base Sequence
  • Gene Amplification
  • Gene Conversion*
  • Genetic Linkage*
  • Globins / genetics*
  • Haplotypes*
  • Humans
  • Molecular Sequence Data
  • Multigene Family
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes

Substances

  • Oligonucleotide Probes
  • Globins