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.
References
Avenarius HJ, Dahmer J (1976) Basistext Hämolytische Anämien. Med Welt 27:112–118
Betke K, Kleihauer E (1962) Hämoglobinanomalien in der deutschen Bevölkerung. Schweiz Med Wochenschr 92:1316–1318
Cao A, Gossens M, Pirastu M (1989) β-Thalassemia mutations in Mediterranean populations. Br J Haematol 71:309–312
Chehab FF, Honig GR, Kan YW (1986) Spontaneous mutation in β-thalassemia producing the same nucleotide substitution as that in a common hereditary form. Lancet 1:3–5
Eigel A, Schnee J, Oehme R, Horst J (1989) Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron. Hum Genet 81:371–372
Fisher RA (1930) The genetical theory of natural selection. Clarendon Press, Oxford
Flatz G (1979) Epidemiologie erblicher Blutkrankheiten in der gemäßigten Klimazone. Gesellschaft für Anthropologie und Humangenetik, 16. Tagung, Heidelberg, 1979
Heilmeyer L, Müller W, Schubothe H (1951) Über eisenrefraktäre, kobaltsensible Anämien und zur Frage des Vorkommens der Thalassaemia minor in Deutschland. Klin Wochenschr 29:333–335
Herders Konversationslexikon (1903) Vol 2, 3rd edn. Herder, Freiburg i Br
Hundrieser J, Sanguansermsri T, Papp T, Laig M, Flatz G (1988) β-Globin gene linked DNA haplotypes and frameworks in three southeast Asian populations. Hum Genet 80:90–94
Kazazian HH, Orkin S, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans. Nature 310:152–154
Kohne E, Kleihauer E (1974) Häufigkeit und Formen von anomalen Hämoglobinen und Thalassämie-Syndromen in der deutschen Bevölkerung. Klin Wochenschr 52:1003–1010
Laig M, Sanguansermsri T, Wiangnon S, Hundrieser J, Pape M, Platz G (1989) The spectrum of β-thalassemia mutations in northern and northeastern Thailand. Hum Genet 84:47–50
Oehme R, Kohne E, Horst J (1985) DNA-polymorphic patterns linked to the β-globin gene in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups. Hum Genet 71:219–222
Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296:627–631
Pirastu M, Saglio G, Camaschella C, Loi A, Serra A, Bertero T, Gabutti W, Cao A (1988) Delineation of specific β-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis. Blood 71:983–988
Pribilla W (1951) Thalassaemia minor. Dtsch Arch Klin Med 198:223–235
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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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DOI: https://doi.org/10.1007/BF00276342