摘要
目的对1例长岛型掌跖角化症(Nagashima-type Palmoplantar Keratosis,NPPK)患者的丝氨酸蛋白酶抑制剂B7(SERPINB7)基因突变进行分析。方法采用聚合酶链式反应扩增SERPINB7基因所有的外显子及其邻近的剪切点并进行直接测序。结果该例NPPK患者检测到SERPINB7杂合突变c.796C>T(p.Arg266Ter),导致SERPINB7基因编码的蛋白第266位氨基酸由精氨酸变为终止密码。100例正常对照中均未检测到SERPINB7基因突变。结论 SERPINB7 c.796C>T(p.Arg266Ter)基因突变可能是该例NPPK患者的致病基因。
Objective To investigate serine protease inhibitors B7(SERPINB7)gene mutation in one case with Nagashima-type palmoplantar keratosis(NPPK).Methods All coding exons and adjacent splice sites of the SERPINB7 gene were amplified by PCR,and direct sequencing was performed.Results SERPINB7c.796C>T(p.Arg266Ter)gene heterozygous mutation was detected in this case of NPPK,causing the 266th amino acid encoded by SERPINB7 gene from arginine to termination code.No SERPINB7 mutations were found in 100 healthy controls.Conclusion SERPINB7 c.796C>T(p.Arg266Ter)mutation may be the pathogenetic gene of this case of NPPK.
作者
杨铭华
李常兴
陈琳
魏威胜
刘勇胜
陈穗玲
周少珍
刘慧茹
林东子
韩春雷
YANG Minghua;LI Changxing;CHEN Lin;WEI Weisheng;LIU Yongsheng;CHEN Suiling;ZHOU Shaozhen;LIU Huiru;LIN Dongzi;HAN Chunlei(Department of Dermatology,Humen Traditional Chinese Medicine Hospital of Dongguan,Guangdong 523906;Department of Dermatology,The Sixth People’s Hospital of Dongguan,Guangdong 523008;Department of Dermatology,Fenggang Hospital of Dongguan,Guangdong 523690;Department of Dermatology,Shipai Hospital of Dongguan,Guangdong 523330;Department of Dermatology,Traditional Chinese Medicine Hospital of Dongguan,Guangdong 523005,China)
出处
《右江医学》
2018年第1期23-25,共3页
Chinese Youjiang Medical Journal
基金
广东省医学科学技术研究基金项目(A2017530
A2016025)
东莞市社会科技发展项目资助(201750715005123)
