先天性厚甲症Ⅱ型一家系KRT17基因突变研究  

Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family

作　　者：张士德[1,4] 林振兴[2] 张正华[3] 刘晶晶[1] 田伟[1] 赵敬军[1] 

机构地区：[1]福建医科大学附属协和医院协和临床学院皮肤科,福州350001 [2]福建医科大学附属协和医院协和临床学院血液研究所,福州350001 [3]复旦大学华山医院皮肤科 [4]福鼎市医院皮肤科

出　　处：《中华医学遗传学杂志》2011年第1期6-9,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：福建省高等学校新世纪优秀人才支持计划资助（NCETFJ-0706）

摘　　要：目的研究1个先天性厚甲症Ⅱ型家系的基因突变情况。方法收集该家系的详细临床资料，外周血提取基因组DNA，PCR扩增KRT17热点突变区，通过PCR扩增产物直接测序方法对该家系患者、正常成员和100名无亲缘关系的正常人进行KRT17基因突变检测。结果在该家系患者KRT17基因的第1外显子上发现了1个错义突变（296T→C），导致KRT17的1A区亮氨酸由脯氨酸替代（L99P），而家系中正常成员和家系外100名正常对照中均未能发现该突变。结论该家系患者的临床表现为KRT17发生突变（L99P）所致，结合文献复习证实部分PC-Ⅱ家系基因型与表现型之间存在一定相关性。Objective To investigate the keratin 17 gene （KRT17）mutation in a pedigree with pachyonychia congenita type 2 （PC-II ）. Methods DNA was extracted from the blood samples of the patients, unaffected members of the pedigree, and 100 unrelated healthy controls. PCR was performed to amplify the hot spots in KRT17 gene. PCR products were directly sequenced to detect mutation. Results A heterozygous 296T→C mutation was found in all the affected members of this family, which resulted in the substitution of leucine by proline in codon 99 （L99P） in the 1A domain of the KRT17, but not in the healthy individuals from the family and the 100 unrelated controls. Conclusion The mutation of KRT17 may play a major role in the pathogenesis of this pedigree with pachyonychia congenita type 2.

关 键 词：先天性厚甲症2型 KRT17基因 基因突变 

分 类 号：R596[医药卫生—内科学] R440[医药卫生—临床医学]