Linkage analysis of quantitative traits: increased power by using selected samples

Am J Hum Genet. 1991 Oct;49(4):786-96.

Abstract

Although a number of methods have been developed for linkage analysis of quantitative traits, power is relatively poor unless there is a single major locus of very large effect. Here it is demonstrated that the use of selected samples (i.e., ascertainment of a proband with an extreme score on the quantitative measure) can dramatically increase power, especially when proband selection is performed on the tail of a distribution with an infrequent recessive gene. Depending on gene action and allele frequency, selected samples permit detection of a major locus that accounts for as little as 10%-20% of the phenotypic variation. The judicious use of selected samples can make an appreciable difference in the feasibility of linkage studies for quantitative traits.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Gene Frequency / genetics
  • Genes, Recessive / genetics
  • Genetic Linkage / genetics*
  • Genetic Variation / genetics*
  • Genotype
  • Humans
  • Mathematics
  • Models, Statistical
  • Phenotype
  • Regression Analysis
  • Sampling Studies*