Inbreeding in recessive diseases

  title={Inbreeding in recessive diseases},
  author={Paul Tchen and Etienne Bois and Josu{\'e} Feingold and Nicole Feingold and Josselyne Kaplan},
  journal={Human Genetics},
SummaryThe 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… 

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