摘要
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基因突变C487T可能与本家系弥漫性掌跖角化病发病有关。
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.
出处
《中国麻风皮肤病杂志》
2016年第7期399-401,共3页
China Journal of Leprosy and Skin Diseases
