三个先天性掌跖角化病家系致病基因的染色体定位  

Localization of the disease-causing gene coding for hereditary palmoplantar keratoderma

作　　者：殷鑫浈[1] 张宝荣[1] 胡正茂[2] 刘志蓉[1] 

机构地区：[1]浙江大学医学院第二附属医院神经内科,浙江杭州310009 [2]中南大学医学遗传学国家重点实验室,湖南长沙410078

出　　处：《基础医学与临床》2007年第10期1127-1130,共4页Basic and Clinical Medicine

基　　金：浙江省自然科学基金(M303800)

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。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.

关 键 词：掌跖角化病 连锁分析 角蛋白9基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]