Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

@article{Barbujani1990SegregationAO,
  title={Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases},
  author={Guido Barbujani and Antonio Russo and Gian Antonio Danieli and Aribert W. J. Spiegler and Janina Borkowska and I. Hausmanova Petrusewicz},
  journal={Human Genetics},
  year={1990},
  volume={84},
  pages={522-526}
}
The proportion of sporadic cases of Duchenne muscular dystrophy has been estimated by classical segregation analysis in a pooled sample of 1885 sibships from 7 different countries. A significant departure from the theoretical expectations based on mutation-selection equilibrium is observed (segregation frequency = 0.439 ± 0.017; frequency of sporadic cases = 0.229 ± 0.026, at the maximum likelihood). The occurrence of germinal mosaicism in some of the mothers of Duchenne cases may account for… CONTINUE READING