On extending the transmission/disequilibrium test (TDT)

The transmission/disequilibrium test (TDT), for evaluation of the null hypothesis of neither linkage nor association between a marker locus and disease, is extended to the more general situation of transmission of two multi-allele marker loci from parents to affected offspring. Transmission probabilities are derived for a generalized single locus disease model, where the disease locus is taken to lie between the two marker loci. There could be unlinked modifier loci for the disease. Examples of the extended TDT are given and it is shown how the contribution from each locus can be evaluated, both separately and jointly.