毛囊角化病ATP2A2基因突变的检测

Mutations in ATPA2 gene in patients with Darier's disease

目的:检测2例散发及2个家系毛囊角化病患者ATP2A2基因的突变。方法:采用聚合酶链反应扩增患者和健康对照个体ATP2A2基因的全部外显子,并进行DNA测序,检测该基因突变。结果:共发现1个新的点突变(TVS11+32 C→T)和2个已发现的错义突变(R131Q,N767S)。结论:毛囊角化病具有遗传异质性。

Objective： To detect mutations of ATP2A2 gene in two families and two sporadic patients with Darier＇s disease （DD）. Methods： Polymerase chain reaction and direct sequencing were performed to identify the mutations of ATP2A2 gene. Results： One novel variation （IVSll ＋ 32 C→T） and two reported missense mutations （R131Q and N767S） were identified. Conclusions： DD is a disorder with hereditary heterogeneity, presenting with similar clinical features.