一毛囊角化病家系ATP2A2基因突变的检测

目的 检测一毛囊角化病家系中ATP2A2基因的突变。方法 1例经组织病理结合临床诊断为毛囊角化病,采用聚合酶链反应和DNA测序方法对此家系进行基因突变情况检测。结果 家系中患者在ATP2A2上第1541位腺嘌呤A变为鸟嘌呤G,使编码ATP酶结合域第514位氨基酸由赖氨酸变为精氨酸,家系中未患病者及对照的健康人均不存在此突变。结论 K514R是引起该家系临床病变的一个新的特异突变,不是多态性变化。

Mutation of ATP2A2 Gene in a Pedigree with Darier's Disease

Objective To study ATP2A2 gene mutation in a family with Darier's disease. Methods A patient was diagnosed as Darier's disease by pathology and clinical features. PCR and DNA sequencing were used to detect the gene mutation of the family. Results A A1541G transition was found in ATP2A2 gene of the patient. This mutation resulted in K514R substitution in ATP binding domain. No mutation was found in other healthy family members and normal controls. Conclusions K514R,the novel mutation, may be an underlying cause of Darier's disease in this family, not a common polymorphism.