title: Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
abstract: We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.
authors.forename: C S
authors.initials: CS
authors.lastname: Hatton
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: H C
authors.initials: HC
authors.lastname: Drysdale
authors.forename: W G
authors.initials: WG
authors.lastname: Wood
authors.forename: M A
authors.initials: MA
authors.lastname: Vickers
authors.forename: J
authors.initials: J
authors.lastname: Sharpe
authors.forename: H
authors.initials: H
authors.lastname: Ayyub
authors.forename: I M
authors.initials: IM
authors.lastname: Pretorius
authors.forename: V J
authors.initials: VJ
authors.lastname: Buckle
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000818:Animals; D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D015536:Down-Regulation / Q000235:genetics; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells / Q000502:physiology; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000209:etiology* / Q000235:genetics
chemical_list: D005914:Globins