【摘要】 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患者和健康对照个体ATP2C1基因的全部外显子,直接测序法进行DNA测序,100例无亲缘关系的正常人作为对照。结果该家系患者ATP2C1基因内含子3的末端235-2碱基发生了1个腺嘌呤(A)→鸟嘌呤(G)的杂合性剪接位点突变。家系中健康对照个体及无亲缘关系的正常对照均未发现该突变。结论该剪接位点突变可影响基因转录和翻译产物,是ATP2C1基因新的特异性突变。更多还原

【Abstract】 Objective To study a Chinese pedigree with Hailey-Hailey disease(HHD)and exa-mine the ATP2C1 gene mutation in this family.Method All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.Results We identified a novel heterozygous nucleotide A→G transition at position 235-2 in intron 3 of ATP2C1 gene.This splice site mutation was not found in the healthy members of this pedigree and in the controls.Conclusion The splicing mutation can affect the result of transcription and translation,and it is a specific novel mutation of ATP2C1 gene.更多还原