CAJ | 학술논문

目的：检测1例散发性生殖器丘疹样棘层松解性皮病患者ATP2C1基因突变。方法：提取患者、其父母及100名无亲缘关系健康对照的外周血以及患者皮损组织DNA,PCR扩增ATP2C1基因28个外显子和侧翼序列,并进行测序。结果：检测到患者血样及皮损组织DNA均存在ATP2C1基因第1570位碱基发生突变T→C,父母及对照未发现突变。结论： ATP2C1基因17号外显子的突变可能是本患者的发病原因。生殖器丘疹样棘层松解性皮病可能与Hailey病组成一个连续病谱。
목적：검측1례산발성생식기구진양극층송해성피병환자ATP2C1기인돌변。방법：제취환자、기부모급100명무친연관계건강대조적외주혈이급환자피손조직DNA,PCR확증ATP2C1기인28개외현자화측익서렬,병진행측서。결과：검측도환자혈양급피손조직DNA균존재ATP2C1기인제1570위감기발생돌변T→C,부모급대조미발현돌변。결론： ATP2C1기인17호외현자적돌변가능시본환자적발병원인。생식기구진양극층송해성피병가능여Hailey병조성일개련속병보。
Objective:To identify mutation of ATP2C1 gene in a sporadic case with papular acantholytic dermatosis ( PAD) in genitalia. Methods:Genomic DNA was extracted from the peripheral blood of the pa-tient, parents and 100 healthy controls, as well as the biopsy specimen of the lesion. All the exons of ATP2C1 gene and the flanking sequences were amplified by PCR. Direct sequencing was performed to screen the muta-tions in the gene. Results: One mutation (c.1570T>C) was identified in the patient and none of mutations was found in the patient’ s parents and healthy controls. Conclusion:The mutation of ATP2C1 gene is associ-ated with the onset of PAD in this patient, PAD and Hailey-Hailey disease may belong to a continnous spec-trum.