Sample size required for predefined linkage decision quality

Genet Epidemiol. 1997;14(5):479-91. doi: 10.1002/(SICI)1098-2272(1997)14:5<479::AID-GEPI3>3.0.CO;2-X.


A method for estimating the sample size required to attain a predefined linkage decision quality (type I and type II errors) is proposed using the linkage test power estimate developed by Ginsburg et al. [(1996) Genet Epidemiol 13:355-366]. The method is applicable for samples of arbitrarily structured pedigrees collected via proband. Comparison of different ascertainment schemes and pedigree structures by their consequent minimal sample size was performed. For recessive and dominant inheritance with complete penetrance, the relative ranks of the ascertainment schemes are invariant regardless of the true recombination fraction value and the trait and marker gene frequencies, which enables one to point out the better scheme. The feasibility of evaluating a sampling strategy by the cost of pedigree collection is also considered, and comparison between these two methods of sample planning is performed.

MeSH terms

  • Gene Frequency
  • Genetic Linkage*
  • Genetic Testing / economics*
  • Humans
  • Likelihood Functions
  • Models, Genetic*
  • Pedigree
  • Phenotype
  • Sample Size*