title: gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.
abstract: In gamma-beta-thalassaemia, human gamma- and beta-globin gene expression is suppressed; this results in a severe anaemia in newborns which subsequently develops into a beta-thalassaemia syndrome in adult life. This hereditary disease is now shown to be the result of a deletion of at least 40,000 base pairs of the gammadeltabeta-globin gene locus. The gamma- and delta-globin genes are deleted in the affected chromosome but, surprisingly, the beta-globin gene is still present, together with a large segment of the DNA sequences flanking the gene on its 5'-side and the entire region on the 3'-side of the gene. Hence, a deletion of DNA far from the beta-globin gene results in the suppression of its activity.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D005796:Genes; D005914:Globins / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics; D006801:Humans; D008970:Molecular Weight; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA; D006441:Hemoglobin A; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes