The molecular basis of disorders of human hemoglobin synthesis.
The structure and organization of the human globin genes at the nucleotide level has been established by restriction endonuclease digestion of cellular DNA, and by the isolation and purification of these genes in phage vectors. With this approach it has been possible to define alterations at the DNA level resulting in a group of inherited diseases of man known as the thalassemia syndromes, and related disorders. Combined with other known genetic and biochemical data, these studies provide a framework for understanding the pathogenesis of these disorders at the molecular level.
D001483:Base Sequence; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000648:ultrastructure; D004247:DNA / Q000032:analysis*; D004261:DNA Replication; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000235:genetics
D012333:RNA, Messenger; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes