表皮松解性角化过度型鱼鳞病一家系K10基因突变的研究

摘要

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DNA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G→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.