中文摘要：

目的：检测表皮松解性掌跖角皮症一家系患者角蛋白9（KRT9）基因突变。方法：收集家系成员的临床资料和血样,提取家系中4例患者和3名正常人及50名与本家系无关的正常对照外周血DNA,采用PCR技术扩增KRT9基因所有编码区并进行测序,分别检测家系中的突变情况。结果：该家系中所有患者均存在KRT9基因错义突变（c.484T〉C）,导致第162位密码子由TCT（丝氨酸）转变为CCT（脯氨酸）（p.S162P）,家系中3名正常个体和50名健康对照均未发现上述突变。结论：KRT9基因c.484T〉C错义突变是导致该家系发生表皮松解性掌跖角皮症的遗传基础。

英文摘要：

Objective： To detect the mutation of keratin 9 gene（ KRT9） in a family with epidermolytic palmoplantar keratoderma（ EPPK）. [WT5＂HZ]Methods： Clinical data and blood samples of patients in the family were collected. Genomic DNA was extracted from the peripheral blood of the family members（ including4 patients and 3 unaffected members） and 50 healthy controls. All the exons of KRT9 gene and their flanking intronic sequences were amplified by PCR and direct sequencing was performed to screen the mutations in gene. Results： A missense mutation of c. 484 T C was found in the patients,but absent in other 3 healthy members of the family and 50 unrelated healthy controls. Conclusion： The missense mutation of KRT9 gene（ c.484TC; p.S162P） is possible the molecular basis of pathogenesis of EPPK in this family.