遗传性全白甲一家系角蛋白17基因突变的研究  

Keratin 17 gene mutation in a pedigree with hereditary leukonychia totalis

作　　者：刘红杰[1] 李恒进[1] 王婷[1] 冯峥[1] 

机构地区：[1]解放军总医院皮肤科,北京100853

出　　处：《军医进修学院学报》2006年第2期107-109,共3页Academic Journal of Pla Postgraduate Medical School

基　　金：解放军总医院院长基金(03YZJJ002)

摘　　要：目的:研究角蛋白17基因突变与遗传性全白甲临床表型的关系。方法:用PCR扩增来自同一家系的16例全白甲患者、5名正常人外周血基因组DNA角蛋白17基因8个外显子编码序列及非编码序列,PCR产物进行序列分析。结果:此基因在本家系16例患者中未发现突变位点。结论:在本家系可能有新的致病基因位于其它染色体上。Objective：To detect mutations of the keratin 17 gene in a Chinese hereditary leukonyehia totalis pedigree and to study the relationship between the genetic mutations and phenotype of Hereditary leukonyehia totalis with the view to definite the gene and the further gene map. Methods： Genomie DNA from sixteen patients and five normal persons in the same pedigree suffering Hereditary leukonyehia totalis were extracted, and subsequently eight exons and intron of KRT17 gene were screened for mutations by PCR and DNA sequencing techniques. Results： Mutation in the KRT17gene was not detected in all 16 Chinese patients, Conclusion：Mutations in involvement of other genes may cause the disease in this Chinese pedigree.

关 键 词：遗传性全白甲 角蛋白 突变 

分 类 号：R334.5[医药卫生—人体生理学]