伴有色素沉着的单纯型大疱性表皮松解症K5和K14基因突变分析

摘要

目的 检测宁夏地区一伴有色素沉着的单纯型大疱性表皮松解症家系的角蛋白5(keratin 5,K5)和角蛋白14 (keratin 14,K14)基因突变.方法 提取患者及对照组的外周血DNA,采用聚合酶链反应对K5和K14基因的全部外显子进行扩增,并进行DNA测序.结果 在测序的11例患者中,发现K5的1个错义突变(237C＞T),而在家系正常人及100名正常对照中均未发现该突变.结论 K5基因的错义突变可能与该家系患者的发病有关.%Objective To identify keratin 5 (K5)and keratin 14 (K14)gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation. Methods Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls.All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.Results By DNA sequence analysis,a missense mutation inK5 gene (c.237C＞T) was detected.The same mutation was not found in non-affected members from the family and normal controls.Conclusion Mutation in K5 gene (c.237C＞T) may be responsible for the development of disease in this family.