title: Molecular characterization of beta-thalassemia in Hungary.
abstract: We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.
authors.affiliation: Trencseni ut 39/b, Budapest, Hungary.
authors.forename: B
authors.initials: B
authors.lastname: Ringelhann
authors.forename: J G
authors.initials: JG
authors.lastname: Szelenyi
authors.forename: M
authors.initials: M
authors.lastname: Horanyi
authors.forename: M
authors.initials: M
authors.lastname: Svobodova
authors.forename: V
authors.initials: V
authors.lastname: Divoky
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: S
authors.initials: S
authors.lastname: Hollân
authors.forename: A
authors.initials: A
authors.lastname: Marosi
authors.forename: M
authors.initials: M
authors.lastname: Laub
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000032:analysis; D016368:Frameshift Mutation / Q000235:genetics; D005914:Globins / Q000235:genetics; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008967:Molecular Biology; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA