title: A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia.
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.
authors.affiliation: Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.
authors.forename: E E
authors.initials: EE
authors.lastname: Bouhassira
authors.forename: H
authors.initials: H
authors.lastname: Lachman
authors.forename: R
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: D
authors.initials: D
authors.lastname: Labie
authors.forename: R L
authors.initials: RL
authors.lastname: Nagel
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics*; D001483:Base Sequence; D005784:Gene Amplification; D005785:Gene Conversion; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes
chemical_list: D015345:Oligonucleotide Probes; D005914:Globins