Dowling-Meara亚型单纯型大疱性表皮松解症基因突变分析  

Analysis of Keratin Gene Mutation in Dowling-Meara Epidermolysis Bullosa Simplex

作　　者：杨建强[1,2] 

机构地区：[1]湖州师范学院医学院,浙江湖州313000 [2]湖州师范学院附属第一医院皮肤科,浙江湖州313000

出　　处：《临床医学工程》2012年第9期1470-1471,1474,共3页Clinical Medicine & Engineering

摘　　要：目的检测一例单纯型大疱性表皮松解症Dowling-Meara亚型(EBS-DM)患者的基因突变,作出基因诊断,为该病的基因治疗奠定基础。方法报告一例单纯型大疱性表皮松解症Dowling-Meara亚型(EBS-DM)患者,并采集该患者及其正常亲属8名及50名无血缘关系者血样,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。结果在患者中,位于K14第1外显子的94位密码子由GCT突变成ACT,导致由丙氨酸(Alanine,Ala)突变为苏氨酸(Threonine,Thr),即p.Ala94Thr,而家系中正常人及与家系无血缘关系的50例正常人无此突变。结论该EBS-DM患者的K14第1外显子存在A94T突变。Objective To detect the causative genes of EBS Dowling-Meara （EBS-DM）. Methods This study reported a sporadic case of EBS-DM. The DNA was extracted from the peripheral blood of the patient with EBS-DM, 8 unaffected members of his family, and 50 unrelated controls to amplify all exons of keratin 14 （K14） and keratin 5 （K5）. The products were directly sequenced. Results In the patient of the pedigree, the codon 94 GCT was mutated as ACT causing the substitution of Alanine by Threonine （A94T） located in the exon 1 of keratin 14. No such mutation was found in the unaffected members of the family and the 50 unrelated controls. Conclusions The results suggest that the mutation of A94T in KRT 14 gene is the underling cause of the patient with EBS-DM.

关 键 词：单纯性大疱性表皮松解症 角蛋白 突变 

分 类 号：R446.11[医药卫生—诊断学] R596.1[医药卫生—临床医学]