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Mediterranean types of β-thalassemia in the German population

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Summary

Forty β-thalassemia genes from unrelated German heterozygotes with no known foreign ancestry were examined using the oligonucleotide technique and DNA restriction analysis, with the aim of determining the contribution of Mediterranean β-thalassemia mutations to the prevalence of this trait in the German population. Of the 40 β-thalassemia genes, 26 were identified as Mediterranean types (20 β39 nonsense, 3 IVS2 nt 110, 2 IVS2 nt1, 1 IVS1 ntl G→A). The geographic distribution of the birthplaces of the probands' grandparents revealed no difference in the proportion of Mediterranean and unidentified β-thalassemia genes in the west and the north of Germany.

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Laig, M., Pape, M., Hundrieser, J. et al. Mediterranean types of β-thalassemia in the German population. Hum Genet 85, 135–137 (1990). https://doi.org/10.1007/BF00276342

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