家族性良性慢性天疱疮一家系ATP2C1基因突变与基因诊断研究

ATP2C1 mutation study in a family of Hailey-Hailey disease

目的:定位一家族性良性慢性天疱疮患者ATP2C1突变基因。方法:应用DNA直接测序法检测基因的突变。结果:先证者ATP2C1基因的第6号外显子中发现一个尚未报道的突变位点366T→A(Y122X),在4个临床表现正常的后代中发现2人存在相同的突变位点。结论:发现一家族性良性慢性天疱疮一个新的特异性突变位点。

Objective： To identify mutations in the ATP2C1 gene in a pedigree of Chinese Harley- Hailey disease （HHD）. Methods： Direct sequencing was used to identify mutation in ATP2C1 gene in a family of Hailey- Hailey disease. Results： Mutation of 366T→A（Y122X）was identified in exon 6 of ATP2C1 gene in the proband. The two of four offsprings with normal phenotype also carried the same mutation. Conclusion： A novel mutation in ATP2C1 gene was identified.