三个先天性掌跖角化病致病基因的染色体定位

基础医学与临床 ›› 2007, Vol. 27 ›› Issue (10): 1127-1130.

三个先天性掌跖角化病致病基因的染色体定位

殷鑫浈张宝荣胡正茂刘志蓉

浙江大学医学院附属第二医院神经内科浙江大学医学院附属第二医院神经内科浙江大学医学院附属第二医院神经内科

收稿日期:2006-11-13 修回日期:2007-01-18 出版日期:2007-10-25 发布日期:2007-10-25
通讯作者: 殷鑫浈

Localization of the disease-causing gene responsible for hereditary palmoplantar keratoderma at chromosome

Received:2006-11-13 Revised:2007-01-18 Online:2007-10-25 Published:2007-10-25

摘要/Abstract

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侯选基因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。

Abstract: Objective To identify a locus at chromosome responsible for hereditary palmoplantar keratoderma of three Chinese pedigrees. Methods The genome scan was conducted using 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 using the MLINK program of the LINKAGE software package, version 5.1. Results The maximum two-point LOD score 6.59 and 5.96 at q=0.1 were obtained at D17S1868 and D17S787 on chromosome 17q12-q21. It is a support evidence of linkage between this disease and KRT9 which has been mapped within the region. Conclusion There was a locus responsible for this disease on chromosome 17q12-q21.

殷鑫浈张宝荣胡正茂刘志蓉. 三个先天性掌跖角化病致病基因的染色体定位[J]. 基础医学与临床, 2007, 27(10): 1127-1130.

. Localization of the disease-causing gene responsible for hereditary palmoplantar keratoderma at chromosome[J]. Basic & Clinical Medicine, 2007, 27(10): 1127-1130.