Molecular characterization of β-thalassemia in Czechoslovakia

Karel Indrak, Vaclav Brabec, Jarmila Indrakova, Ladislav Chrobak, Adriana Sakalova, Marie Jarosova, Jaroslav Cermak, You jun Fei, Ferdane Kutlar, Yuan chao Gu, Erol Baysal, Titus H.J. Huisman

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Abstract

We have identified different β-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 Heinzbody β-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 β-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, α-Thalassemia was rare; only one person carried the -α3.7 heterozygosity, and one other had a yet to be identified α-thalassemia-1, while seven had the αααanti 3.7 triplication.

Original languageEnglish (US)
Pages (from-to)399-404
Number of pages6
JournalHuman Genetics
Volume88
Issue number4
DOIs
StatePublished - Jan 1 1992

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Indrak, K., Brabec, V., Indrakova, J., Chrobak, L., Sakalova, A., Jarosova, M., Cermak, J., Fei, Y. J., Kutlar, F., Gu, Y. C., Baysal, E., & Huisman, T. H. J. (1992). Molecular characterization of β-thalassemia in Czechoslovakia. Human Genetics, 88(4), 399-404. https://doi.org/10.1007/BF00215673