Abstract

The human major histocompatibility complex (MHC) class I region is believed to contain a large number of disease-related loci for diseases such as Behçet's disease and psoriasis vulgaris. Although many novel genes have recently been identified in this region, it still appears to be difficult to relate any of these new genes to MHC class I-associated diseases as causative genetic factors. During the course of large-scale genomic sequencing of the human MHC class I region, we identified 262 microsatellite sequences with dinucleotide to pentanucleotide repeats around the HLA-B, -C and HLA-E genes. Of these, 26 microsatellites were investigated for repeat polymorphism using 60 HLA homozygous B-cell lines and 60 healthy random individuals. The average number of alleles at these microsatellite loci was 9.6 with a PIC (polymorphism content value) of 0.69. These new polymorphic microsatellite markers will probably be very useful for precise mapping of disease-related genes within the HLA class I region in linkage analysis. Moreover, they will provide a powerful tool to study recombination events in this region, which contributes to haplotypic diversification.

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