Genetic mapping of the disease gene causing dyschromatosis symmetrica hereditaria

对称遗传性色素沉着症（DSH）是一种常染色体显性色素遗传病，由日本皮肤科医生富山于1910年首次报道。它的特点是手背和脚背上出现各种大小的色素沉着和色素沉着的斑点。DSH的致病基因及其染色体定位尚未确定。因此，我们试图确定疾病基因的位点。我们对三个日本DSH家族（共36例患者）的DSH和微卫星标记物进行了连锁分析。来自连锁图谱集（Perkin-Elmer, Foster City， CA）的200多个微卫星标记被用于连锁分析。DNA片段长度分析使用个人电脑Macintosh Centris 650，安装672 Genescan软件和gentyper Ver. 1.1。每个标记的等位基因大小使用GAS包版本2.0进行四舍五入。用FASTLINK软件包4.0进行连锁分析计算。2分和5分分析结果显示LOD评分<3的区域。我们现在试着指定这个区域。

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.