弥漫性掌跖角化病一家系角蛋白9基因检测

目的：检测弥漫性掌跖角化病一家系中的KRT9基因突变情况。方法：提取该家系中3例患者和3名家系正常成员及100名健康对照的外周血DNA，采取PCR扩增KRT9基因序列，ABI PRISM-3700测序仪检测KRT9基因突变情况。结果：该家系中3例患者存在KRT9基因上第487位C>T突变，而该家系的正常成员及健康对照未检测到突变。结论：KRT9基因基因突变C487T可能与本家系弥漫性掌跖角化病发病有关。

Mutations of keratin 9 gene in one family with diffuse plamoplantar keratoderma

Objective:To identify mutations of keratin 9 gene ( KRT9) in a family with diffuse plamoplan-tar keratoderma ( DPPK) . Methods:DNA was extracted from the peripheral blood of the patients in a family (3 patients and 3 normal members) and 100 healthy controls. All the exons of KRT9 were amplified by PCR and direct DNA sequencing was performed by ABI PRISM-3700 sequenator. Results: A missense mutation ( 487C>T) in the KRT9 gene was identified in the three patients and none of mutation was found in 3 normal family members and healthy controls. Conclusion:The mutation of C487T in KRT9 gene is associated with the onset of diffuse palmoplantar keratoderma in the family.