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Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups

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Summary

The α1-antitrypsin phenotypes of two Dutch population groups (consisting of 672 and 802 individuals) were determined by the isoelectric focusing technique, which due to its recent development, has been used for the first time in large-scale phenotyping.

As in other population studies on the α1-antitrypsin phenotype distribution, Pi M is the most frequently occurring allele. The two investigated groups exhibit remarkable differences, both to other studied groups as well as to each other. The most interesting results are probably the high frequencies of the alleles Pi- and of the recently discovered Pi MN. Comparison with phenotype studies carried out in other populations is also presented.

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References

  • Altay, C., Fagerhol, M. K., Erdogan, N., Say, S.: Additional evidence for a deleted gene for serum alpha-1-antitrypsin. New Engl. J. Med.289, 754 (1973)

    Google Scholar 

  • Arnaud, Ph., Chapuis-Cellier, C., Creyssel, R.: Polymorphisme de l'alpha-1-antitrypsine plasmatique (système Pi). Mise en évidence par électrofocalisation sur gel de polyacrylamide. C.R. Soc. Biol. (Paris)168, 58–64 (1974)

    Google Scholar 

  • Blundell, C., Frazer, A., Cole, R. B., Nevin, N. C.: Alpha-1-antitrypsin phenotypes in Northern Ireland. Ann. hum. Genet.38, 289–294 (1975)

    Google Scholar 

  • Broek, v. d., W. G. M., Hoffmann, J. J. M. L., Dijkman, J. H.: Paper submitted for publication

  • Dew, T. A., Eradio, B., Pierce, J. A.: Antitrypsin gene frequencies in healthy people (abstract only). J. clin. Invest.52, 23a (1973)

  • Fagerhol, M. K.: Serum Pi types in Norwegians. Acta path. microbiol. scand.70, 421–428 (1967)

    Google Scholar 

  • Fagerhol, M. K., Laurell, C.-B.: The polymorphism of prealbumins and alpha-1-antitrypsin in human sera. Clin. chim. Acta16, 199–203 (1967)

    Google Scholar 

  • Fagerhol, M. K., Tenfjord, O. W.: Serum Pi types in some European, American, Asian and African populations. Acta path. microbiol. scand.72, 601–608 (1968)

    Google Scholar 

  • Fagerhol, M. K., Gedde-Dahl, T., Jr.: Genetics of the Pi serum types. Hum. Hered.19, 354–359 (1969)

    Google Scholar 

  • Fagerhol, M. K., Eriksson, A. W., Mohn, E.: Serum Pi types in some Lappish and Finnish populations. Hum. Hered.19, 360–364 (1969)

    Google Scholar 

  • Jansveld, C. A. F.: Thesis, University of Nijmegen (1975)

  • Kellermann, G., Walter, H.: Investigations on the population genetics of the alpha-1-antitrypsin polymorphism. Humangenetik10, 145–150 (1970)

    Google Scholar 

  • Kueppers, F.: Alpha-1-antitrypsin: physiology, genetics and pathology. Humangenetik11, 177–189 (1971)

    Google Scholar 

  • Kueppers, F., Black, L. F.: α-antitrypsin and its deficiency. Amer. Rev. resp. Dis.110, 176–194 (1974)

    Google Scholar 

  • Laurell, C.-B., Eriksson, S.: The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. Scand. J. clin. Lab. Invest.15, 132–140 (1963)

    Google Scholar 

  • Lebas, J., Hayem, A., Martin, J. P.: Etude des variants génétiques de l'alpha1-antitrypsine et immunoélectrofocalisation bidimensionelle. C.R. Acad. Sci. (Paris)278, 2359–2360 (1974)

    Google Scholar 

  • Martin, J.-P., Vandeville, D., Ropartz, C.: Alpha-1-antitrypsin deficiency: Pi O. Lancet1973, 845

  • Talamo, R. C., Langley, C. E., Reed, C. E., Makino, S.: Alpha-1-antitrypsin deficiency: a variant with no detectable alpha-1-antitrypsin. Science181, 70–71 (1973)

    Google Scholar 

  • Webb, D., Hyde, R. W., Schwartz, R. H., Hall, W. J., Condemi, J. J., Townes, P. L.: Serum α1-antitrypsin variants. Prevalence and clinical spirometry. Amer. Rev. resp. Dis.108, 918–925 (1973)

    Google Scholar 

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Hoffmann, J.J.M.L., van den Broek, W.G.M. Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups. Hum Genet 32, 43–48 (1976). https://doi.org/10.1007/BF00569975

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