期刊
HUMAN HEREDITY
卷 58, 期 1, 页码 55-58出版社
KARGER
DOI: 10.1159/000081457
关键词
linkage analysis; parametric analysis; LOD scores; X chromosome; pseudoautosomal region; paternal imprinting
We present a recoding scheme that allows for a parametric multipoint X-chromosomal linkage analysis of dichotomous traits in the context of a computer program for autosomes that can use trait models with imprinting. Furthermore, with this scheme, it is possible to perform a joint multipoint analysis of X-linked and pseudoautosomal loci. It is required that ( 1) the marker genotypes of all female nonfounders are available and that ( 2) there are no male nonfounders who have daughters in the pedigree. The second requirement does not apply if the trait locus is pseudoautosomal. The X-linked marker loci are recoded by adding a dummy allele to the males' hemizygous genotypes. For modelling an X-linked trait locus, five different liability classes are defined, in conjunction with a paternal imprinting model for male nonfounders. The formulation aims at the mapping of a diallelic trait locus relative to an arbitrary number of codominant markers with known genetic distances, in cases where a program for a genuine X-chromosomal analysis is not available. Copyright (C) 2004 S. Karger AG, Basel.
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