Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant.
Restriction endonuclease mapping of the beta-globin genomic region was used for studying the molecular basis of two variants of hereditary persistence of fetal hemoglobin (HPFH): an African G gamma (beta)+ HPFH and a Chinese HPFH variant with predominant synthesis of A gamma chains. HPFH and control DNA samples were digested with a battery of restriction enzymes, and the fragments were identified by hybridization to a family of discrete probes. DNA fragments from the A gamma HPFH (Chinese) and the G gamma (beta)+ HPFH individuals were identical with those of the normal controls. These findings suggest that the two mutants are the result of small structural anomalies of DNA sequences that play a role in the regulation of the expression of gamma-globin genes.
D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D010641:Phenotype
D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes