Genetic linkage studies in the pseudoautosomal region of the human sex chromosomes

Abstract

The two pseudoautosomal regions (PARs) of the human sex chromosomes have drawn considerable interest from researchers in cytogenetics, cytology, evolutionary biology and developmental genetics. However, theses two regions have been widely ignored by the two genetic mapping approaches, using linkage and association analysis methods. At least 29 genes are known to be located in the PARs, most of them of unknown function. Accurate and comprehensive linkage maps are crucial for the success of gene mapping projects. The difference between male and female genetic maps, chromosomal position and population under study, are a challenge to genetic map construction in diploid organisms in which sex is determined by a pair of different sex chromosomes. A high-resolution genetic map that is based on the largest set of polymorphic markers in the PARs so far has been estimated. Based on this map it is determined how genetically different in size is the female X chromosomes from the male X chromosome.