单纯型大疱性表皮松解症Dowling-Meara亚型基因突变检测

A Recurrent Keratin 14 Mutation in Dowling-Mearaepidermolysis Bullosa Simplex

目的探讨单纯型大疱性表皮松解症Dowling-Meara亚型(EBS-DM)的遗传学发病机制。方法报告1例单纯型大疱性表皮松解症Dowling-Meara亚型(EBS-DM)的家系,选择该家系中2例患者、1名正常人及50名无血缘关系者,扩增外周血基因组DNA中编码角蛋白14(K14)和角蛋白5(K5)的所有外显子,PCR产物进行序列分析。结果在此EBS-DM家系患者中,位于K14第1外显子的125位密码子由CGC突变CAC,导致精氨酸由组氨酸替代(R125H),而家系中正常人及与家系无关的50例正常人无此突变。结论该EBS-DM家系患者的K14第1外显子存在R125H突变。

Objective To discuss the genetic pathogenesy of EBS Dowling-Meara （EBS-DM） . Methods We reported a chinese pedigree of EBS-DM . The DNA was extracted from the peripheral blood of the 2 patients with EBS-DM , unaffected member of the pedigree , and 50 unrelated normal persons to amplify all exons of keratin 14 （K14） and keratin 5 （ K5 ）. The products were directly sequenced. Results In the patients of the pedigree, the codon 125 CGC was mutated as CAC causing the substitution of arginine by histidinde （R125H） located in the exon 1 of keratin 14. No such mutation was found in the unaffected member of the pedigree and the 50 unrelated controls. Conclusion There was a mutation R125H located in the exon 1 of keratin 14 in the patients of the pedigree.