Human Genetics

, Volume 38, Issue 2, pp 163–167 | Cite as

Inbreeding in recessive diseases

  • Paul Tchen
  • Etienne Bois
  • Josué Feingold
  • Nicole Feingold
  • Josselyne Kaplan
Original Investigations

Summary

The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed:

cystic fibrosis: 1.4%

cystinosis: 7.1%

nephronophtisis: 5.6%

spinal muscular atrophy: 4.5%

albinsism: 5.0%

achromatopsia: 12.5%

(Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriages relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France.

Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.

Keywords

Internal Medicine General Population Cystic Fibrosis Metabolic Disease Rare Disease 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Araújo, A. M. de, Salzano, F. M.: Marital distances and inbreeding in Porto Alegre, Brazil. Soc. Biol. 21, 249–255 (1974)Google Scholar
  2. Azevedo, E., Morton, N. E., Miki, C., Yee, S.: Distance and kinship in North-eastern Brazil. Amer. J. Hum. Genet. 21, 1–22 (1969)Google Scholar
  3. Barrai, I., Cavalli-Sforza, L. L., Moroni, A.: Frequencies of pedigrees of consanguineous marriages and mating structure of the population. Ann. Hum. Genet. 25, 347–377 (1962)Google Scholar
  4. Bickel, H., Harris, H.: The genetic of Lignac-Fanconi disease. Acta Paediat. (Uppsala) 42, suppl. 90, 22–26 (1952)Google Scholar
  5. Bois, E., Feingold, J., Frenay, P., Briard, M. L.: Infantile cystinosis in France: Genetics, incidence, geographic distribution. J. Med. Genet. 13, 434–438 (1976)Google Scholar
  6. Broberger, O., Winberg, J., Zetterstrom, R.: Juvenile nephronophtisis. Part. I. Acta Paediat. 49, 470–479 (1960)Google Scholar
  7. Cavalli-Sforza, L. L., Kimura, M., Barrai, I.: The probability of consanguineous marriages. Genetics 54, 37–60 (1966)Google Scholar
  8. Danks, D. M., Allan, J., Anderson, C. M.: A genetic study of fibrocystic disease of the pancreas. Ann. Hum. Genet. 28, 323–356 (1965)Google Scholar
  9. Emery, A. E. H., Davie, A. M., Smith, H.: Spinal muscular atrophy. Resolution of heterogeneity. In: Proceedings of the third international congress on muscle diseases, Newcastle-upon-Tyne, 15–21 September 1974. pp. 557–565. Amsterdam: Excerpta Medica 1975Google Scholar
  10. Feingold, J., Hennequet, A., Jehanne, M., Feigelson, J., Toudic, L., Quiniou, O., Briard, M. L.: Fréquence de la fibrose kystique du pancréas en France. Ann. Génét. 17, 257–259 (1974)Google Scholar
  11. Girard, A.: Le choix du conjoint. Paris: Presse Universitaire de France 1974Google Scholar
  12. Gordillo, G., Alvarez, R. G., Bessudo, L.: nefronoptisis juvenil familiar, nefropatia tubulointersticial cronical idiopatica, o enfermedad quistica medular. Boletin Medico del Hospital Infantil de Mexico 24, 533–547 (1967)Google Scholar
  13. Lirenman, D. S., Lowry, R. B., Chase, W. H.: Familial juvenile nephronophtisis. Experience with eleven cases. In: Birth Defects, original articles series, Vol. 10 No. 4, 32–34 (1974)Google Scholar
  14. Mangos, J. A., Opitz, M. J., Lobeck, C. C., Cookson, D. V.: Familial juvenile nephronophtisis. Pediatrics 34, 337–345 (1964)Google Scholar
  15. Morton, N. E., Klein, D., Hussels, I. E., Dodinval, P., Todorov, A.: Genetic structure of Switzerland. Amer. J. Hum. Genet. 25, 347–361 (1973)Google Scholar
  16. Neel, J. V., Kodani, M., Brewer, R., Anderson, R. C.: The incidence of consanguineous matings in Japan. Amer. J. Hum. Genet. 1, 156–178 (1949)Google Scholar
  17. Pearn, J. H., Carter, C. O., Wilson, J.: The genetic identity of acute infantile spinal muscular atrophy. Brain 96, 463–470 (1973)Google Scholar
  18. Sutter, J.: Evolution de la distance séparant le domicile des futurs époux. Population 13, 683–702 (1958)Google Scholar
  19. Sutter, J., Goux, J. M.: Evolution de la consanguinité en France de 1926 à 1958 avec des données récentes détaillées. Population 17, 683–702 (1962)Google Scholar
  20. von Sydow, G., Ranstrom, S.: Familial juvenile nephronophtisis. Acta Paediat. Scand. 51, 561–574 (1962)Google Scholar
  21. Witkop, C. J.: Albinism. In: Advances in human genetics, Vol. 2. New York-London: Plenum 1971Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • Paul Tchen
    • 1
  • Etienne Bois
    • 1
  • Josué Feingold
    • 1
  • Nicole Feingold
    • 1
  • Josselyne Kaplan
    • 2
  1. 1.Groupe de Recherches de Génétique EpidémiologiqueI.N.S.E.R.M., U. 155ParisFrance
  2. 2.Ecole Nationale de Perfectionnement pour Déficients VisulesMongeronFrance

Personalised recommendations