title: Molecular characterization of beta-thalassemia in Czechoslovakia.
abstract: We have identified different beta-thalassemia mutations in 93 members of 34 families of Czech or Slovakian descent using gene amplification, hybridization with specific 32P-labeled oligonucleotide probes, sequencing of amplified DNA, and gene mapping. The G----A mutation at IVS-I-1 was found in 18 families; other Mediterranean mutations were IVS-II-1 (G----A), IVS-II-745 (C----G), IVS-I-110 (G----A), and codon 39 (C----T); these were present in 9 additional families. The G----T mutation at codon 121, known to cause Heinz-body beta-thalassemia, was present in 3 families, and the frameshift at codons 82/83 (-G), first described in the Azerbaijanian population, in 2 families. A newly discovered allele was a frameshift at codons 38/39 (-C). One beta-thalassemia allele was incompletely characterized. We observed in 2 families a T----C mutation at position +96 UTR (untranslated region) relative to the termination codon; this mutation likely is a rare polymorphism. alpha-Thalassemia was rare; only one person carried the -alpha 3.7 heterozygosity, and one other had a yet to be identified alpha-thalassemia-1, while seven had the alpha alpha alpha anti 3.7 triplication.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: V
authors.initials: V
authors.lastname: Brabec
authors.forename: J
authors.initials: J
authors.lastname: Indrakova
authors.forename: L
authors.initials: L
authors.lastname: Chrobak
authors.forename: A
authors.initials: A
authors.lastname: Sakalova
authors.forename: M
authors.initials: M
authors.lastname: Jarosova
authors.forename: J
authors.initials: J
authors.lastname: Cermak
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: Y C
authors.initials: YC
authors.lastname: Gu
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003604:Czechoslovakia / Q000453:epidemiology; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D016368:Frameshift Mutation; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA