[一个中国汉族家庭中2型先天性厚甲症的角蛋白17突变]
[Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family].
作者信息
Zhang Shi-de, Lin Zhen-xing, Zhang Zheng-hua, Liu Jing-jing, Tian Wei, Zhao Jing-jun
机构信息
Department of Dermatology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):6-9. doi: 10.3760/cma.j.issn.1003-9406.2011.01.002.
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.
目的
研究2型先天性厚甲症（PC-II）家系中的角蛋白17基因（KRT17）突变情况。
方法
从患者、家系中未患病成员以及100名无血缘关系的健康对照者的血液样本中提取DNA。进行PCR扩增KRT17基因的热点区域。对PCR产物进行直接测序以检测突变。
结果
在该家系所有患病成员中发现了一个杂合的296T→C突变，该突变导致KRT17的1A结构域第99密码子处的亮氨酸被脯氨酸取代（L99P），而家系中的健康个体以及100名无血缘关系的对照者中未发现此突变。
结论
KRT17突变可能在该2型先天性厚甲症家系的发病机制中起主要作用。
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