Skip to main content
SpringerLink
Log in

Alpha-1-Antitrypsin phenotypes in Lyon, France

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Alpha-1-antitrypsin Pi phenotyping was performed by thin-layer isoelectric focusing on samples from 1653 healthy white blood donors. The variants were confirmed by the acid-starch gel technique and crossed immuno-electrophoresis, with complete agreement between the two methods. The allele frequencies in this population were PiM, 0.9019; PiS, 0.0713; PiZ, 0.0142; PiI, 0.0036; PiF, 0.0036; PiV, 0.0024. In addition, some rare phenotypes (MX, IS, LM) were noted. No difference was noted in the distribution of the variant alleles between males and females. The significance of the high frequency of the S allele is related to the ethnic origin of this population. The agreement of the results obtained by our technique and by acid-starch gel electrophoresis confirms the validity of Pi determination by thin-layer isoelectric focusing.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Allen, R. C., Harley, R. A., Talamo, T. C.: A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs. Amer. J. clin. Pathol 62, 732–739 (1974)

    Google Scholar 

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

    Google Scholar 

  • Arnaud, Ph., Bernheim, J., Chapuis-Cellier, C., Creyssel, R.: A new case of Pi ≪--≫: Biochemical findings. Colloq. Inserm 40, 109–120 (1975a)

    Google Scholar 

  • Arnaud, Ph., Chapuis-Cellier, C., Creyssel, R.: The Pi system: Its study by means of thin-layer gel electrofocusing in polyacrylamide gels. In: Protides of biological fluids, H. Peeters, ed., pp. 515–520. London: Pergamon (1975b)

    Google Scholar 

  • Arnaud, Ph., Chapuis-Cellier, C., Wilson, G. B., Koistinen, J., Allen, R. C., Fudenberg, H. H.: Polyacrylamide gel isoelectric focusing (PAGIF) applied to alpha-1-proteinase (A1Pi) phenotyping. II. Immunochemical procedures. In: Electrofocusing and isotachophoresis, B. J. Radola, D. Graesslin, eds., pp. 265–272. Berlin-New York: de Gruyter 1977

    Google Scholar 

  • Berg, N. O., Erikson, S.: Liver diseases in adults with alpha-1-antitrypsin deficiency. New Engl. J. Med. 287, 1264–1266 (1972)

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  • Chapuis-Cellier, C.: M.D. Thesis, Université Claude Bernard, Lyon, France (1975)

  • Cook, P. J. L.: The genetics of alpha-1-antitrypsin. A family study in England and Scotland. Ann. hum. Genet. 38, 275–287 (1975)

    PubMed  Google Scholar 

  • Cox, D. W.: A new deficiency allele of alpha-1-antitrypsin: Pi M Malton. In: Protides of biological fluids, H. Peeters, ed., pp. 375–378. London: Pergamon 1976

    Google Scholar 

  • Cox, D. W., Koeppner, V. H., Levison, H.: Protease inhibitors in patients with chronic obstructive pulmonary disease: The alpha-1-antitrypsin heterozygote controversy. Amer. Rev. resp. Dis. 113, 601–606 (1976)

    PubMed  Google Scholar 

  • Erikson, S.: Studies in alpha-1-antitrypsin deficiency. Acta med. scand. (suppl. 175) 177, 1–85 (1965)

    Google Scholar 

  • Eriksson, S., Hagerstrand, I.: Cirrhosis and malignant hepatoma in alpha-1-antitrypsin deficiency. Acta med. scand. 195, 451–458 (1974)

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  • Fagerhol, M. K.: The Pi system: Genetic variants of serum alpha-1-antitrypsin. Ser. Haematol. 1, 153–161 (1968)

    Google Scholar 

  • Fagerhol, M. K., Braend, M.: Serum prealbumin: Polymorphism in man. Science 149, 986–987 (1965)

    PubMed  Google Scholar 

  • Fagerhol, M. K., Ericksson, A. W., Monn, E.: Serum Pi types in some Lappish and Finnish populations. Hum. Hered. 19, 3–7 (1969)

    Google Scholar 

  • Fagerhol, M. K., Hauge, H. E.: The Pi system phenotype MP. Discovery of a ninth allele belonging to the system of inherited variants of serum alpha-1-antitrypsin. Vox Sang. (Basel) 15, 396–400 (1968)

    Google Scholar 

  • Fagerhol, M. K., Laurell, C. B.: The polymorphism of prealbumins and alpha-1-antitrypsin in human sera. Clin. chim. Acta 16, 199–203 (1967)

    Article  PubMed  Google Scholar 

  • Fagerhol, M. K., Laurell, C. B.: The Pi system of inherited variants of serum alpha-1-antitrypsin. Progr. med. genet. 7, 96–111 (1970)

    Google Scholar 

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

    PubMed  Google Scholar 

  • Feldmann, G., Bignon, J., Chahinian, P.: The liver in alpha-1-antitrypsin deficiency. Digestion 10, 162–174 (1974)

    PubMed  Google Scholar 

  • Goedde, H. W., Benkmann, H. G., Christ, I., Singh, S., Hirth, L.: Gene frequencies of red cell adenosine desaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha-1-antitrypsin in a German population. Humangenetik 17, 85–87 (1972)

    PubMed  Google Scholar 

  • Goedde, H. W., Hirth, L., Benkmann, H. G., Pellicer, A., Pellicer, T., Stahn, M., Singh, S.: Population genetic studies of serum protein polymorphisms in four Spanish populations. Hum. Hered. 23, 135–146 (1973)

    PubMed  Google Scholar 

  • Kellerman, G., Walter, H.: Investigation on the population genetics of the alpha-1-antitrypsin polymorphism. Humangenetik 10, 145–150 (1970)

    PubMed  Google Scholar 

  • Kueppers, F.: Determination of alpha-1-antitrypsin phenotypes by isoelectric focusing in polyacrylamide gels. J. Lab. clin. Med. 88, 151–155 (1976)

    PubMed  Google Scholar 

  • Laurell, C. B., Eriksson, S.: The electrophoretic Alpha-1-globulin pattern in Alpha-1-antitrypsin deficiency. Scand. J. Clin. lab. Invest. 15, 132 (1963)

    Google Scholar 

  • Lieberman, J.: Alpha-1-antitrypsin deficiency and chronic pulmonary disease. N.Y. State J. Med. 76, 181–186 (1976)

    PubMed  Google Scholar 

  • Lieberman, J., Mittman, C., Cordon, H. W.: Alpha-1-antitrypsin in the livers of patients with emphysema. Science 175, 63–65 (1972)

    PubMed  Google Scholar 

  • Martin, J. P., Vandeville, D., Ropartz, C.: Alpha-1-antitrypsin deficiency, PiO. Lancet 1973 II, 845

  • Pierce, J. A., Eradio, B., Dew, T. A.: Antitrypsin phenotypes in St. Louis. J. Amer. med. Ass. 231, 609–612 (1975)

    Article  Google Scholar 

  • Robinet-Levy, M., Rieunier, M.: Techniques d'identification des groupes Pi. Premières statistiques languedociennes. Rev. franç. Transfus. 15, 61–72 (1972)

    Google Scholar 

  • Sharp, H. L., Bridges, R. A., Krivit, W., Freier, E. F.: Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder. J. Lab. clin. Med. 73, 934–939 (1969)

    PubMed  Google Scholar 

  • Talamo, R. C., Langley, C. E., Reed, C. E., Makino, S.: Alpha-1-antitrypsin deficiency: A variant with no detectable alpha-1-antitrypsin. Science 181, 70–71 (1973)

    PubMed  Google Scholar 

  • Vandeville, D., Martin, J. P., Lebreton, J. P., Ropartz, C.: Le système Pi dans les populations Normande et Amérindienne. Rev. franç. Transfus. 15, 213–218 (1972)

    Google Scholar 

  • Vandeville, D., Martin, J. P., Ropartz, C.: Alpha-1-antitrypsin polymorphism of a Bantu population. Description of a new allele: PiL. Humangenetik 21, 33–38 (1974)

    PubMed  Google Scholar 

Download references

Author information

Author notes

  1. Phillippe Arnaud

    Present address: Department of Basic and Clinical Immunology and Microbiology, Medical University of South Carolina, 29401, Charleston, South Carolina, USA

Authors and Affiliations

  1. Laboratoire Central de Biochimie B, Hôpital E. Herriot, F-69374, Lyon, Cedex 2, France

    Phillippe Arnaud & R. Creyssel

  2. Laboratoire de Biochimie Appliquée, Domaine Rockefeller, F-69375, Lyon Cedex 2, France

    C. Chapuis-Cellier

  3. Centre de Transfusion Sanguine, Hôtel-Dieu, F-69371, Lyon Cedex 1, France

    P. Vittoz

Authors
  1. Phillippe Arnaud
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Chapuis-Cellier
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Vittoz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. Creyssel
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Arnaud, P., Chapuis-Cellier, C., Vittoz, P. et al. Alpha-1-Antitrypsin phenotypes in Lyon, France. Hum Genet 39, 63–68 (1977). https://doi.org/10.1007/BF00273153

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00273153

Keywords

Search

Navigation