Markov chain Monte Carlo segregation and linkage analysis for oligogenic models

Am J Hum Genet. 1997 Sep;61(3):748-60. doi: 10.1086/515506.


A new method for segregation and linkage analysis, with pedigree data, is described. Reversible jump Markov chain Monte Carlo methods are used to implement a sampling scheme in which the Markov chain can jump between parameter subspaces corresponding to models with different numbers of quantitative-trait loci (QTL's). Joint estimation of QTL number, position, and effects is possible, avoiding the problems that can arise from misspecification of the number of QTL's in a linkage analysis. The method is illustrated by use of a data set simulated for the 9th Genetic Analysis Workshop; this data set had several oligogenic traits, generated by use of a 1,497-member pedigree. The mixing characteristics of the method appear to be good, and the method correctly recovers the simulated model from the test data set. The approach appears to have great potential both for robust linkage analysis and for the answering of more general questions regarding the genetic control of complex traits.

Publication types

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

MeSH terms

  • Computer Simulation
  • Genetic Linkage*
  • Humans
  • Markov Chains*
  • Models, Genetic*
  • Monte Carlo Method*
  • Pedigree
  • Phenotype