【摘要】 目的　了解一个痒疹样大疱性表皮松解症家系中的基因突变情况。方法　采用聚合酶链反应 (PCR) ,DNA直接测序以及等位基因特异引物的多重PCR方法 ,对一个痒疹样大疱性表皮松解症家系 40人 (其中患者 2 3例 )进行基因突变情况检测。结果　该家系中患者存在COL7A1上G6 10 0A的突变导致VII型胶原的 2 0 34位的甘氨酸被精氨酸替代 ,而对照的健康人不存在此突变。结论　G2 0 34R突变是引起该家系临床病变的特异突变 ,不是多态性变化。更多还原

【Abstract】 Objective To identify gene mutation of a epidermolysis bullosa pruriginosa family. Methods Polymerase chain reaction (PCR), DNA squencing, multiplex PCR using allele specific oligonucleotide primers. Results A G6100A transition of COL7A1 was found in patients, resulting in G2034R substitution in type VⅡ collagen. The mutation was not found in control normal individuals. Conclusion The mutation of G2034R is the underlying cause of epidermolysis bullosa pruriginosa in this family, not common polymorphism.更多还原