中华皮肤科杂志 ›› 2003, Vol. 36 ›› Issue (2): 65-66.

• 论著 • 上一篇    下一篇

先天性厚甲症Ⅱ型一家系角蛋白17基因突变的研究

肖生祥1, 任小蓉1, 冯义国1, 王文强2, 刘安1, 潘敏1   

  1. 1. 西安交通大学第二医院皮肤科 710004;
    2. 延安大学医学院医学遗传学研究室
  • 收稿日期:2002-02-04 出版日期:2003-02-15 发布日期:2003-02-15
  • 基金资助:
    西安交通大学“教育振兴行动计划”重点培植项目基金资助(PZ045)

Keratin 17 Gene Mutation in a Pedigree with Pachyonychia Congenita typeⅡ

XIAO Sheng-xiang1, REN Xiao-rong1, FENG Yi-guo1, WANG Wen-qiang2, LIU An1, PAN Min1   

  1. Department of Dermatology, The Second Hospital, Xian Jiaotong University, Xi'an 710004, China
  • Received:2002-02-04 Online:2003-02-15 Published:2003-02-15

PDF (PC)

166

赞

摘要： 目的 研究一先天性厚甲症Ⅱ型(PC鄄Ⅱ)患者家系基因突变,探讨基因突变和临床表现的关系。方法 PCR扩增外周血基因组DNAK17基因第一外显子,PCR产物进行序列分析。结果 家系中3例患者(2例为迟发型厚甲,分别在4岁和15~16岁发生)K17基因第92位密码子由AAT突变为AGT,导致K17角蛋白1A区N92S突变。而该家系中的2例正常人及与该家系无关的50例正常人未发现此突变。结论 该PC鄄Ⅱ型家系存在K171A区N92S突变。K171A区突变可呈现为迟发型先天性厚甲。角蛋白基因突变位置可能不是PC鄄Ⅱ厚甲发生年龄的唯一决定因素,可能还存在其它遗传或环境因素决定PC鄄Ⅱ厚甲发生的年龄。

关键词: 指(趾)甲疾病, 皮肤疾病, 遗传性, 角蛋白, 突变

Abstract: Objective To investigate the gene mutation in a pedigree with pachyonychia congenita typeⅡ(PC-Ⅱ)and to explore the relationship between the mutation and clinical manifestations.Methods The exon1of K17 gene of genomic DNA from peripheral blood was amplified by PCR,and the PCR products were sequenced by automated sequencing system.Results In all the 3 patients of the pedigree with PC-Ⅱ(2 patients presented as delayed-onset PC at 4 and 15-16 years of age respectively),the codon 92(AAT)of K17 gene was mutated as AGT,which caused missense mutation(N92S) in the 1 A domain of keratin 17,but the 2 unaffected members of the pedigree and50unrelated controls had no such mutation.Conclusions Mutation of N92S in the1A domain of keratin 17 exists in this pedigree with PC-Ⅱ.Our results indicate that mutation in the1A domain of keratin 17 can present as delayed-onset pachyonychia congenita.Therefore,the site and type of keratin mutation are not the sole determinant of the age of onset for PC-Ⅱ,there may be other genetic and/or environmental factors that determine the age of onset of PC-Ⅱ.

Key words: Nail diseases, Skin diseases, genetic, Keratin, Mutation