【摘要】 目的定位3个先天性掌跖角化病家系的致病基因在染色体上的区间。方法选择位于17q12～q21和12q11～q13内及其附近的微卫星标记D17S1868、D17S787、D17S1857、D17S798、D17S944、D17S949和D12S85、D12S368、D12S83、D12S345对3个掌跖角化病家系进行基因组扫描与连锁分析。结果在17号染色体的2对微卫星标记D17S1868和D17S787上分别得到了总Lod值高达6.59(θ=0.1)和5.96(θ=0.1),每个家系各自的Lod值也在2(θ=0/0.1)以上,提示这3个家系的致病基因与位于该区间的候选基因KRT9呈紧密连锁。结论这3个家系的致病基因被定位于17q12～q21内。更多还原

【Abstract】 Objective To identify a locus at chromosome coding for hereditary palmoplantar keratoderma of three Chinese pedigrees.Methods The genome scan was conducted with microsatellite markers on chromosome 12(D12S85、D12S368、D12S83、D12S345)and 17(D17S1868、D17S787、D17S1857、D17S798、D17S944、D17S949)respectively on the ABI 3100 Genetic Analyzer(Applied Biosystems).Two-point LOD score was calculated.Results The maximum two-point LOD score 6.59 and 5.96 at θ=0.1 were obtained at D17S1868 and D17S787 on chromosome 17q12～q21.It is an evidence of linkage between this disease and KRT9 which has been mapped within the region.Conclusion There is a locus responsible for this disease on chromosome 17q12～q21.更多还原