1例DEB的基因突变研究

Study of Gene Mutation of Dominant Dystrophic Epidermolysis Bullosa of One Case

目的检测1例营养不良型大疱性表皮松解症(DEB)家系的基因突变位点。方法对1例DEB患者及其家属成员采用聚合酶链反应及DNA直接测序方法进行COL7A1基因突变检测。结果患者存在COL7A1上第6240位鸟嘌呤G被腺嘌呤A代替(G→A),使得2043位的甘氨酸被精氨酸替代(G2043R),其父母、妹妹及健康人未见此突变。结论COL7A1基因的G2043R突变可能是引起本例临床表现的原因,且是一个denovo突变。

Objective To detect the position of gene mutation in a patient with dystrophic epidermolysis bullosa (DEB)and her family .Methods Dectation of gene mutation was carried out with polymerase chain reaction(PCR) and DNA sequencing to a patient with DEB and her family members.Results G6240A transition in the COL7A1 gene was found in the patient.This mutation resulted in G2043R substitution in type Ⅶ collagen gene.No mutation was found in her parent,sister and normal individuals.Conclusion The mutation,G2043R is cause of patient with DEB.It is a mutation of de novo.