中国慢性家族性良性天疱疮ATP2C1基因新的杂合无义突变一家系报告  

A Novel Heterozygous Nonsense Mutation of ATP2C1 Gene in a Chinese Family with Hailey-Hailey Disease

作　　者：张启国[1] 蔡良奇[1] 黄一锦[1] 

机构地区：[1]厦门大学附属第一医院皮肤科厦门市第一医院福建医科大学教学医院,福建厦门361003

出　　处：《中国皮肤性病学杂志》2015年第12期1213-1215,共3页The Chinese Journal of Dermatovenereology

基　　金：厦门市科技计划指导性项目(3502Z20149003)

摘　　要：目的分析中国慢性家族性良性天疱疮(HHD)一家系遗传学特点。方法收集中国HHD一家系及100例匹配的对照组,抽取外周血后,按标准方法提取基因组DNA。ATP2C1基因所有外显子和外显子内含子交界区序列采用PCR扩增,并直接测序。结果在ATP2C1的第25号外显子发现一个新的杂合无义突变c.2395 C>T(p.R799X)。结论本研究结果丰富了HHD患者ATP2C1基因突变谱,为后续的遗传咨询,产前诊断及未来的基因治疗奠定了基础。Objective To analyze the genetic changes in Hailey-Hailey disease （HHD） in a Chinese family. Methods Peripheral blood samples were collected from a Chinese HHD family and a matched control cohorts. All exons of the ATP2C1 gene were analyzed using PCR, and exon-intron borders were sequenced. Results A novel heterozygous nonsense mutation designated c. 2395 C 〉 T（ p. R799X） in exon 25 of the ATP2C1 gene was identified. Conclusion Additional mutation in the ATP2C1 gene exists in HHD.

关 键 词：慢性家族性良性天疱疮 ATP2C1 基因 突变 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]