表皮松解性掌跖角化病二家系基因突变检测

目的：检测表皮松解性掌跖角化病二家系患者致病基因。方法：收集二家系资料，提取二家系成员及100名（无亲缘关系）正常对照血样DNA，采取聚合酶链反应技术对KRT1、KRT9和KRT16基因进行扩增，并对其产物进行测序。结果：家系1先证者中检测到 KRT1基因突变c.598T>C（p.F200L）。家系2三例患者中检测到KRT9基因含杂合突变c.488G>A（p.R163Q）。而家系正常成员及家系外无亲缘关系的100名正常对照中均不存在以上突变。结论：本研究表皮松解性掌跖角化病二家系发病与KRT1、KRT9基因突变有关，且KRT1基因突变p.F200L为国内首次报道。

Mutations detection in two families with epidermolytic palmoplantar keratoderma

Objective: To detect the mutations in two families with epidermolytic palmoplantar keratoderma (EPPK). Methods: DNA of blood samples from probands and relatives of two EPPK families, and 100 unrelated normal controls were extracted. Then, the KRT1, KRT9 and KRT16 genes were amplification and sequenced by direct sequencing. Results: The heterozygous mutation c.598T>C, p.F200L in KRT1 gene was found in proband of family 1, and the mutation c.488G>A, p.R163Q in KRT9 gene was found in three patients of family 2. These mutations were invisible in the normal of the two families and 100 unrelated normal controls. Conclusion: The cause of the two EPPK families is related to the mutations of KRT1 and KRT9 genes and the mutations of p.F200L in KRT1 gene is reported first in China.