中文摘要：

目的检测单纯型大疱性表皮松解症（EBS）致病基因角蛋白5（K5）和角蛋白14（K14）基因突变，分析基因型和表型之间的相关性。方法采用PCR和直接测序法对中国汉族人3个EBS家系进行K5基因和K14基因的突变检测，以100例健康人作为正常对照。结果K5基因发现2个突变，一个为移码突变c．1649de1G，另一个为错义突变c．508G〉A；K14基因发现一个错义突变，为c．1237G〉A；在正常对照中未发现上述突变。结论K5或K14基因突变导致该3个家系中患者发病。

英文摘要：

Objective To detect the mutations of K5 and K14 gene in three Chinese families with epidermolysis bullosa simplex（EBS） and analyze the genotype-phenotype correlations. Methods All the coding exons of K5 and K14 gene of these patients and all available unaffected family members and 100 unrelated population-matched vol-unteers were amplified by polymerase chain reaction. The products were analyzed by direct sequencing. Results The frameshifi mutation （c. 1649delG） and missense mutation （c. 508G 〉 A）were identified in KS; another mis-sense mutation （c. 1237G〉A）were identified in K14. Conclusion These mutations in K5 or K14 gene are responsible for the EBS in these three families.