Associative overdominance: evaluating the effects of inbreeding and linkage disequilibrium <B>Associative overdominance: evaluating the effects of inbreeding and linkage disequilibrium</B><P> <B>E. Zouros</B><I><P> Department of Biology, Dalhousie University, Halifax, N.S., Canada, B3H 4J1 and</I> <I>Department of Biology, University of Crete, Iraklion, Crete, Greece</I><P> Received and accepted 27 April 1993<I><B><P> Key words:</B></I><I> </I>heterozygosity, associative overdominance, inbreeding, linkage disequilibrium<B><P> Abstract</B><P> Expressions are obtained for the expected phenotypic values of homozygous and heterozy-ous genotypes for a neutral marker locus linked to a locus segregating for a recessive deleterious gene. The phenotypic values are functions of the allele frequencies at the marker locus, the inbreeding coefficient and the degree of association of the deleterious gene with the marker alleles. The analysis is extended to more than two alleles at the marker locus. Either linkage disequilibrium or inbreeding alone can produce an apparent superiority of heterozygotes for the marker locus (unless specified otherwise, the terms 'homozygote' and 'heterozygote' will refer to the marker locus). The effect of<I> </I>linkage disequilibrium on the difference between the heterozygote and homozygote values can be positive (associative overdominance) or negative (associative underdominance), depending on the frequencies of the marker alleles and the degree of their association with the deleterious gene. Inbreeding has always a positive effect. In the presence of both, the possibility of associative overdominance due to linkage disequilibrium is higher. In general, the expected value of a homozygote is a positive function of its allele frequency. When the various homozygous genotypes are combined into one class and the various heterozygous genotypes into another, the phenotypic difference of the two classes is a function of the evenness of the allelic frequency distribution. Inbreeding is a more likely explanation of associative overdominance if the frequency of the deleterious gene is low, but its effect on<I> </I>the character high. Conversely, linkage disequilibrium is more likely if the frequency is high and the effect low. The degrees of association between marker alleles and the deleterious gene can, in principle, be estimated from the observed phenotypic scores and used to calculate expected multi-locus genotype scores. This could provide the basis for statistical tests of the associative overdominance hypothesis as an explanation of observed correlations between multi-locus heterozygosity and phenotypic traits.<I><P> Genetica </I><B>89</B>: 35-46, 1993.<P>