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


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.


Internal Medicine General Population Cystic Fibrosis Metabolic Disease Rare Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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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

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