化脓性汗腺炎一家系γ-分泌酶基因突变检测  

Mutations in subunits of γ-secretase gene in one family with hidradenitis suppurativa

作　　者：刘勇[1] 徐浩翔 惠云[4] 张晓峰 肖学敏 李诚让 王宝玺 

机构地区：[1]新疆维吾尔自治区人民医院皮肤科,乌鲁木齐830002 [2]中国医学科学院皮肤病医院(研究所),江苏南京210042 [3]江苏省皮肤性病分子生物学重点实验室,江苏南京210042 [4]南京军区总医院皮肤科,江苏南京210002

出　　处：《中国麻风皮肤病杂志》2015年第6期323-325,共3页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号:81101207;81472905);教育部高校博士点基金(编号:20111106120052);中央高校基本科研业务费专项资金&北京协和医学院青年基金(编号:3332013056);杨森科研基金(编号:JRCC2011-皮-01)

摘　　要：目的:检测一化脓性汗腺炎(HS)家系γ-分泌酶基因亚基(PS-1,PENEN-2,APH-1,NCSTN)的突变。方法:提取一化脓性汗腺炎家系及50名无亲缘关系的健康对照血DNA,采用PCR技术扩增PS-1、PENEN-2、APH-1和NCSTN基因的全部外显子,经测序、比对确定致病基因突变位点。结果:该家系HS患者均存在NCSTN c.1300 C>T(p.R434X)突变,而该家系正常成员及50名健康对照者未发现该突变,检索NCBI网站单核苷酸多态性(SNP)数据库亦未发现该突变。其余3个亚基未检测到突变位点。结论:NCSTN基因c.1300C>T突变可能是该家系的致病基因位点。Objective：To identify mutations in subunits （PS-1,PENEN-2,APH-1 and NCSTN）of γ-secretase gene in one family with hidradenitis suppurativa （ HS） . Methods：Genomic DNA was extracted from the peripheral blood of the family and 50 healthy controls. All the exons of PS-1, PENEN-2, APH-1 and NCSTN were amplified by PCR. Direct sequencing was performed to screen the mutations in those genes. Re-sults：One missense mutation （c.1300 C〉T, p.R434X） in NCSTN was identified in all patients, which was not found in healthy members of the family, controls and nucleotide polymophism （ SNP ） database of NCBI. There were no mutations in PS-1, PENEN-2, APH-1. Conclusion：The mutation in NCSTN ofγ-secretase gene may be associated with HS in this family.

关 键 词：反常性痤疮 基因突变 γ-分泌酶基因 

分 类 号：R758.746[医药卫生—皮肤病学与性病学]