痒疹样营养不良型大疱性表皮松解症一家系的基因突变检测

Mutation of COL7A1 gene in a family with dystrophic epidermolysis bullosa pruriginosa

目的研究一中国汉族人痒疹样营养不良型大疱性表皮松解症家系的基因突变。方法采用聚合酶链反应及直接测序的方法对家系中11例患者进行COL7A1基因突变检测,以家系中的16例健康者和100例无亲缘关系的正常人作对照。结果该家系11名患者的COL7A1基因的87号外显子第6859位碱基鸟嘌呤G被腺嘌呤A替代,家系中健康对照及无亲缘关系的正常人均未发现该突变。结论甘氨酸替代突变c.6859G>A(p.G2287R)引起该痒疹样营养不良型大疱性表皮松解症家系发病。

Objective To identify the mutation of COL7A1 gene in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. Methods All the coding exons of COL7A1 gene were amplified by polymerase chain reaction and products were analyzed by direct sequencing. The results were compared with that of the other 16 normal members from the same family and 100 unrelated population - matched control individuals. Results A glycine substitution mutation at nucleotide 6859 （G→A） of COL7A1 gene was identified in the 11 patients, but normal in all controis. Conclusion The c. 6859G 〉 A （ p. G2287R） mutation of COL7A1 gene is the pathologic mutation in this Chinese family.