Inbreeding in recessive diseases

@article{Tchen1977InbreedingIR,
  title={Inbreeding in recessive diseases},
  author={Paul Tchen and E. Schulz-Du Bois and Josu{\'e} Feingold and Nicole Feingold and Josselyne Kaplan},
  journal={Human Genetics},
  year={1977},
  volume={38},
  pages={163-167}
}
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… CONTINUE READING
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