Genetic mapping of the disease gene causing dyschromatosis symmetrica hereditaria

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Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama, Japanese Dermatologist in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. We therefore tried to determine the locus of the disease gene.We performed linkage analysis between DSH and microsatellite markers in three Japanese DSH families (36 patients in total). More than 200 microsatellite markers from Linkage Mapping Set (Perkin-Elmer, Foster City, CA) were used for linkage analysis. DNA fragment length analysis was carried out using personal computer, Macintosh Centris 650 with 672 Genescan software and Genotyper Ver. 1.1. The allele size of each marker was rounded using the GAS package Ver. 2.0. Calculations for linkage analysis were performed with the FASTLINK software package Ver. 4.0.The result of two-point and five-point analyses showed the regions with a LOD score of <3. We now try to specify the region.