表皮松解性角化过度型鱼鳞病一家系K10基因突变的研究

Keratin 10 mutation in a pedigree with bullous congenital ichthyosiform erythroderma

目的:检测一表皮松解性角化过度型鱼鳞病家系K10基因突变位点。方法:提取该家系成员的外周血DNA,采用聚合酶链反应(PCR)及IDNA直接测序方法,检测患者角蛋白1(K1)及K10的基因突变。结果:该家系2例患者存在K10基因的杂合点突变,即在K10基因第2140位C→A,导致其第156位的精氨酸变为组氨酸(R156H)。结论:K10 R156H是导致该家系2例患者临床表型的特异突变,进一步证实K10基因第156位密码子是突变热点。

Objective： To investigate gene mutations in a family with epidermolytic hyperkeratotic ichthyosis （EHK）. Methods： Genomic DNA was extracted from blood samples of the family and 50 normal healthy controls. Mutations of keratinl （K1） and keratin 10 （K10） were detected by polymerase chain reaction （PCR） and DNA sequencing. Results： There was a single heterozygous point mutation in K10 gene, i.e. 2140 G→A of K10, leading to an amino acid alteration of arginine to histidine （K10 R156H）. Conclusion： K10 R156H mutations are the cause of the phenotype in the two cases, and further confirm that R156H in K10 is a mutation hotspot in patients with EHK.