毛囊角化病ATP2A2基因突变分析

目的检测毛囊角化病患者ATP2A2基因的突变。方法提取全部患者及健康对照个体的外周血DNA,采用聚合酶链反应扩增ATP2A2基因的全部外显子,并进行DNA测序。结果在收集到的2个家系和3例散发患者中共发现3个突变,包括1个缺失突变(1622delAACA),1个插入突变(180insCTTAA)和1个错义突变(698GT),均为未见报道的突变。在100例正常对照中均未发现上述突变。结论收集到的毛囊角化病患者存在ATP2A2基因的突变,这些突变可能会影响角质形成细胞中钙离子的转运,使表皮细胞的连接和分化出现异常。

Mutational Analysis of the ATP2A2 Gene in Patients with Darier's Disease

Objective To studyidentify the ATP2A2 gene mutations in patients of Darier′s disease.Methods Genomic DNA was extracted from peripheral blood samples obtained from the patients and controls.The mutations of ATP2A2 gene were detected by polymerase chain reaction (PCR) and direct sequencing.Results Three novel mutations were identified,including a deletion mutations(1622delAACA),a insertion mutation (180insCTTAA) and a missense mutation (698G>T).The same mutation was not detected in DNA samples of 100 unrelated individuals.Conclusion Mutation in ATP2A2 of our DD patients may affect Ca2+ signaling in keratinocytes,altering the formation of intercellular junctions and cell-cell adhesion.