On planning of samples for linkage analysis: two ways of a sample size reduction

Genet Epidemiol. 1996;13(4):343-54. doi: 10.1002/(SICI)1098-2272(1996)13:4<343::AID-GEPI3>3.0.CO;2-5.


The sample size required for a given type I and type II errors of linkage decision is determined by using the earlier proposed method of the linkage test power estimation [Ginsburg et al., 1996]. Dependence of the sample size on the heterozygotic genotype penetrance is investigated. Two approaches to sample size reduction are considered: the choice of marker gene and the special extension of analyzed pedigree structures. Their effects are quantitatively evaluated in some illustrative situations. It is shown that a practical reduction in sample size can be achieved only when the added part of a pedigree has a special set of phenotypic characteristics in its members.

MeSH terms

  • Genetic Linkage*
  • Genotype
  • Heterozygote
  • Humans
  • Linkage Disequilibrium
  • Pedigree