title: Reconstructing parental genotypes when testing for linkage in the presence of association.
abstract: Various family-based association methods have recently been proposed that allow testing for linkage in the presence of linkage disequilibrium between a marker and a disease even if there is only incomplete parental-genotype information. For some families, it may be possible to reconstruct missing parental genotypes from the genotypes of their offspring. Treating such a reconstructed family as if parental genotypes have been typed, however, can introduce bias. The reconstruction-combined transmission/disequilibrium test (RC-TDT) and its X-chromosomal counterpart, XRC-TDT, employ parental-genotype reconstruction and correct for the biases involved in this reconstruction without relying on population marker allele frequencies. For the two tests, exact P values can be obtained by numerically calculating the convolution of the null distributions corresponding to the families in the sample.
authors.affiliation: Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, D-53105 Bonn, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Knapp
mesh_terms: D000483:Alleles; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome
chemical_list: D005819:Genetic Markers