βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations

G. P. Tamagnini, P. Gonçalves, M. L.S. Ribeiro, J. Kaeda, Ferdane Kutlar, E. Baysal, T. H.J. Huisman

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

We report the characterization of seven different βthalassemia mutations in 131 newly diagnosed Portuguese βthalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four mutations, including the newly discovered TGG→TGA change at codon 15, occurred in excess of 10% and accounted for some 90% of the βthalassemia alleles in this population. The geographical distribution is uneven; the TGA→TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-1-6 (T→C) mutation was confined to the central part of the country.

Original languageEnglish (US)
Pages (from-to)31-40
Number of pages10
JournalHemoglobin
Volume17
Issue number1
DOIs
StatePublished - Jan 1 1993

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Gene Frequency
Thalassemia
Geographical distribution
Mutation
DNA
DNA Restriction Enzymes
Electrophoresis
Codon
Population
Agar
Nucleotides
Gels
Agar Gel Electrophoresis
Heterozygote
DNA Sequence Analysis
Digestion
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Tamagnini, G. P., Gonçalves, P., Ribeiro, M. L. S., Kaeda, J., Kutlar, F., Baysal, E., & Huisman, T. H. J. (1993). βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations. Hemoglobin, 17(1), 31-40. https://doi.org/10.3109/03630269308998883

βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations. / Tamagnini, G. P.; Gonçalves, P.; Ribeiro, M. L.S.; Kaeda, J.; Kutlar, Ferdane; Baysal, E.; Huisman, T. H.J.

In: Hemoglobin, Vol. 17, No. 1, 01.01.1993, p. 31-40.

Research output: Contribution to journalArticle

Tamagnini, GP, Gonçalves, P, Ribeiro, MLS, Kaeda, J, Kutlar, F, Baysal, E & Huisman, THJ 1993, 'βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations', Hemoglobin, vol. 17, no. 1, pp. 31-40. https://doi.org/10.3109/03630269308998883
Tamagnini GP, Gonçalves P, Ribeiro MLS, Kaeda J, Kutlar F, Baysal E et al. βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations. Hemoglobin. 1993 Jan 1;17(1):31-40. https://doi.org/10.3109/03630269308998883
Tamagnini, G. P. ; Gonçalves, P. ; Ribeiro, M. L.S. ; Kaeda, J. ; Kutlar, Ferdane ; Baysal, E. ; Huisman, T. H.J. / βthalassehia mutations in the portuguese; high frequencies of two alleles in restricted populations. In: Hemoglobin. 1993 ; Vol. 17, No. 1. pp. 31-40.
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