Skip to main content
Log in

The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation

  • Published:
International Journal of Anthropology

Abstract

Recently a heterozygote advantage was suggested to explain the high incidence (1:25 carrier individuals in Europeans) of the cystic fibrosis gene. This selective advantage was speculated to be due to a high resistance to chloride-secreting diarrhea, including cholera. Up to now the major efforts to test directly this hypothesis have been limited to animal models.

We propose to verify the hypothesis directly on a sample of human individuals who died from cholera during the epidemic in the Mediterranean basin at the beginning of the nineteenth century. In this preliminary investigation we have attempted to check for the presence of amplifiable DNA in the human remains simultaneously in terms of genetic fingerprints and for cystic fibrosis mutations.

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

Access this article

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

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Baxter, P.S., Goldhill, J., Hardcastle, J., Hardcastle, P.T., Taylor, C.J. (1988). Accounting for cystic fibrosis. (Letter) Nature, 335:211.

    Article  Google Scholar 

  • Bertranpetit, J. and Calafell, F., (1996). Genetic and Geographical Variability in cystic fibrosis: evolutionary considerations. In: Variation in the human genome, Ciba Foundation Symposium 197, Wiley, Chichester, pp. 97–118.

    Google Scholar 

  • Bramanti, B., Pacciani, E. (1998) Norme per il recupero di resti umani nello scavo archeologico in funzione dell’analisi del DNA, in II DNA nello studio dei resti umani antichi: principi, metodi, applicazioni, Medical Book, Palermo.

    Google Scholar 

  • Bramanti, B., Hummel, S., Schultes, T., Herrmann, B., (2000). STR Allelic Frequencies in a German Skeleton Collection, Anthrop. Anz., 58:45–49.

    Google Scholar 

  • Burger, J., Hummel, S., Herrmann, B., Henke, W. (1999). DNA preservation: a microsatellite-DNA study on ancient skeletal remains. Electrophoresis, 20:1722–1728.

    Article  Google Scholar 

  • Collins, F.S. (1992). Cystic Fibrosis: Molecular Biology and Therapeutic Implications. Science, 256:774–779.

    Google Scholar 

  • Gabriel, S.E., Brigman, K.N., Koller, B.H., Boucher, R.C., Stutts, M.J. (1994). Cystic Fibrosis Heretozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model. Science, 266:107–109.

    Google Scholar 

  • Guccione, E., (1991) Storia di Alia 1615–1860. Salvatore Sciascia Editore, Caltanissetta-Roma, pp. 304–313.

    Google Scholar 

  • Hansson, G.C. (1988). Cystic fibrosis and chloride-secreting diarrhoea. Nature, 333:711.

    Article  Google Scholar 

  • Harris, H., Hopkinson, A., Robson, E.B. (1974). The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann. Hum. Genet. 37:237–253.

    Google Scholar 

  • Hummel, S., Schultes, T., Bramanti, B., Herrmann, B. (1999). Ancient DNA profiling by megaplex amplifications. Electrophoresis, 20:1717–1721.

    Article  Google Scholar 

  • Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M., Tsui, L. (1989) Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science, 245:1073–1080.

    Google Scholar 

  • Kimpton, C., Walton, A., Gill, P. (1992). A further tetranucleotide repeat polymorphism in the vWF gene. Hum. Mol. Genet., 1:287.

    Google Scholar 

  • Knudson, A.G., Wayne, L., Hallett, W.Y. (1967) On the selective advantage of cystic fibrosis heterozygotes Am. J. Hum. Genet. 19:388–392.

    Google Scholar 

  • Jorde, L.B., Lathrop, G.M. (1988) A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers. Am. J. Hum. Genet., 42:808–815.

    Google Scholar 

  • Meindl, R.S. (1987). Hypothesis: a selective advantage for cystic fibrosis heterozygotes. Am. J. Phys. Anthropol., 74:39–45.

    Article  Google Scholar 

  • Morral, N., Bertranpetit, J., Estivill, X., et al. (1994). The origin of the major cystic fibrosis mutation (DF508) in European populations. Nat Genet., 7:169–175.

    Article  Google Scholar 

  • Quinton, P.M. (1982). In Fluid and Electrolyte Abnormalities in Exocrine Glands in Cystic Fibrosis (Quinton, P.M., Martinez, R.J., Hopfer, U., eds.), San Francisco Press, San Francisco, pp. 53–76.

    Google Scholar 

  • Rendine, S., Calafell, F., Cappello, N., et al. (1997). Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution. Ann. Hum. Genet., 61: 411–424.

    Article  Google Scholar 

  • Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z. Zielenski, J., Lok, S., Plavsic, N., Chou, J., Drumm, M.L., Iannuzzi, M.C., Collins, F.S., Tsui, L. (1989). Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA. Science, 245:1066–1072.

    Google Scholar 

  • Rommens, J.M., Iannuzzi, M.C., Kerem, B., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.-C., Collins, F.S. (1989). Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping. Science, 245:1059–1065.

    Google Scholar 

  • Shier, W.T. (1979) Increased resistance to influenza as a possible source of heterozygote advantage in cystic fibrosis. Med. Hypotheses, 5:661–667.

    Article  Google Scholar 

  • Vogel, F., Motulsky, A.G. (1979). Human genetics, Problems and Approaches, Springer-Verlag Berlin-Heidelberg-New York, p. 377.

    Google Scholar 

  • Welsh, M.J., Smith, A.E., (1993). Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell, 73:1251–1254.

    Article  Google Scholar 

  • Wright, S.W., Morton, N.E. (1968). Genetic studies on cystic fibrosis in Hawaii. Am. J. Hum. Genet., 20: 157–162.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bramanti, B., Sineo, L., Vianello, M. et al. The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation. Int. J. Anthropol. 15, 255–262 (2000). https://doi.org/10.1007/BF02445136

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02445136

Keywords

Navigation