显性营养不良型大疱性表皮松解症COL7A1基因突变分析

Mutation analysis of COL7A1 gene in dominant epidermolysis bullosa

目的:营养不良型大疱性表皮松解症(dystrophic epidermolysis bullosa,DEB)是一种常染色体显性或隐性遗传性疾病,由编码Ⅶ型胶原的基因(COL7A1基因)突变引起。本文对DEB一家系COL7A1基因突变位点进行检测。方法:对先证者进行DNA全外显子测序,用Sanger测序验证其胞妹的COL7A1突变位点。结果:先证者及其患病胞妹的COL7A1基因型一致,外显子86上的点突变:c.6761G>A;p.Gly2254Glu。结论:新发现一个DEB家族中COL7A1基因外显子86上的一个突变位点,目前在国内未见报道。

Objective:Dystrophic epidermolysis bullosa is an autosomal dominant or recessive disorder caused by mutations in the gene encoding type Ⅶ collagen(COL7A1 gene).To detect the mutation of COL7A1 in a DEB family.Methods:We performed full exon sequencing on DNA of the proband,and verified the COL7A1 mutation site of her sister by Sanger sequencing.Results:The proband and her sister had the same COL7A1 genotype,and the point mutation on exon 86 was c.6761G>A(p.Gly2254Glu).Conclusion:A new mutation locus of DEB family COL7A1 gene is found,which has not been reported in China at present.