一个弥漫性表皮松解性掌跖角化病家系角蛋白9基因R162W突变

目的 研究1个弥漫性表皮松解性掌跖角化病(epidermolytic plamoplantar keratoderma,EPPK)家系中的基因突变情况.方法 收集1个弥漫性表皮松解性掌跖角化病家系的外周血标本,采取聚合酶链反应结合DNA直接测序的方法,检测了该家系中4例患者及3名表型正常者和100名无亲缘关系健康个体的KRT9基因突变情况.结果 该家系中患者存在KR79基因上第484位C突变成T,使得KRTY基因的第1外显子162位密码子由CGG突变成TGG,导致正常精氨酸被色氨酸所取代,而该家系的正常人对照及无关健康个体不存在此突变.结论 EPPK家系中患者KRT9基因存在错义突变(484C→T),这可能是导致EPPK发病的分子机制之一.

Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma

OBJECTIVE: To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK). METHODS: Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing. RESULTS: A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals. CONCLUSION: A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.