家族性慢性良性天疱疮一家系ATP2C1基因突变筛查

Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease

目的 对家族性慢性良性天疱疮一家系的ATP2C1基因突变进行检测.方法 采用聚合酶链反应扩增该家系4例患者和80名健康对照个体ATP2C1基因的全部外显子,直接测序法进行DNA测序,80名健康对照者为无亲缘关系的正常人.结果 在该家系所有患者中均检测出ATP2C1基因第163位碱基由C突变为T,导致终止密码子的提前出现.该突变位点在该家系正常人及健康对照人群中皆未发现.结论 该突变可影响ATP2C1基因的转录和翻译,在中国汉族人家族性慢性良性天疱疮家系中首次报道.

Objective To study a Chinese pedigree with Hailey-Hailey disease （HHD） and identify the ATP2C1 gene mutation in this family. Methods All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated populationmatched controls. Results We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls. Conclusion The mutation can affect the result of transcription and translation of ATP2C1 gene,and it is firstly reported in the Chinese pedigree with HHD.