linkage user's guide (version 5.2)


2.5 Quantitative Variables

Phenotypic information is sometimes presented in the form of quantitative measurements, e.g. creatine kinase for carrier detection in Duchenne muscular dystrophy. The phenotype is then the quantitative value. Unknown phenotypes are entered as 0.0. (The code for unknown quantitative values is a program constant that can be changed.) The genotypic means, the variance of the trait in homozygotes, and the ratio of the variances in heterozygotes and homozygotes must be specified.

If several traits are measured for the same locus, the phenotype is the list of all the variables. A single value of 0.0 in the list is interpreted as an unknown phenotype. The means must be given for each variable as a function of genotype, along with the variance-covariance matrix. The variance matrices for homozygotes and heterozygotes can differ by a constant factor.

For sex-linked traits it is assumed that males will have an affection-status variable rather than a quantitative value. If several variables have been measured (ntrait), a male phenotype consists of affection status followed by ntrait-1 arbitrary entries (for example, zeros). The present version of the programs supports only one affection status class, with full penetrance of the disease allele for sex-linked traits.


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