The probability of dizygosity of phenotypically concordant twins

A basic element in the determination of the zygosity of a twin pair is the proportion of genotypically concordant pairs among the dizygotic pairs. Two methods to derive this proportion are in common use: the first method requires a laborious enumeration of parental genotypic mating types, and the second method relies on a set of formulas, one for each of the possible combinations of genotypes of two full sibs. In this paper the relation between both methods is uncovered. The set of formulas of the second method is reduced to a single general formula, of which the connection with the ITO method (Li and Sacks 1954) is indicated. By applying both methods in turn to an example concerning the MNS blood group system (Fisher 1951), Fisher's way of performing the calculations according to the first method is unraveled, and the preferability of the second method is made clear. Next, formulas are derived for the probability of genotypic or phenotypic concordance of dizygotic twins when direct information on the genotype or phenotype of one of the parents is available. The case of an X-linked locus is also considered. To facilitate applications, tables are given.