title: Molecular characterization of beta-thalassaemia in 174 Greek patients with thalassaemia major.
abstract: The mutations producing beta-thalassaemia in 174 Greek patients with thalassaemia major were investigated by dot-blot hybridization of oligonucleotide probes to genomic DNA amplified by the polymerase chain reaction procedure, by direct sequencing of amplified DNA, and by gene mapping. beta-thalassaemia in Greeks was found to be very heterogeneous at the molecular level as 17 different mutations were observed: 86.6% of the beta-thalassaemic genes, however, could be identified with five probes: IVS-I-110 (G----A) (42.5%), codon 39 (C----T) (17%), IVS-I-1 (G----A) (13.2%), IVS-I-6 (T----C) (7.2%) and IVS-II-745 (C----G) (6.9%). Several mutations which had not previously been reported in the Greek population and which occurred at an incidence of 2% or lower were observed in this study. The information obtained will facilitate the prenatal diagnosis of beta-thalassaemia in Greece.
authors.affiliation: First Department of Pediatrics, University of Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
authors.forename: H
authors.initials: H
authors.lastname: Hu
authors.forename: G
authors.initials: G
authors.lastname: Cheng
authors.forename: A L
authors.initials: AL
authors.lastname: Reese
authors.forename: J M
authors.initials: JM
authors.lastname: Gonzalez-Redondo
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006115:Greece; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D011296:Prenatal Diagnosis / Q000379:methods; D013789:Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes