CAJ | 학술논문

目的探讨一个中国汉族人表皮松解性掌跖角化病(EPPK)家系的角蛋白基因KRT1、KRT9、KRT10突变情况.方法收集1个EPPK家系的临床资料,提取外周血DNA,通过PCR扩增角蛋白KRT1、KRT9、KRT10基因编码区的全部外显子及其侧翼序列并测序,以表型正常家系成员及50例健康人为正常对照.结果发现家系内6例患者均存在KRT1基因错义突变c.1436T>C,导致第479位的异亮氨酸被苏氨酸取代(I479T),在家系中6例正常人及50例对照者未发现上述突变.结论错义突变KRTI的c.1436T>C可能为导致该家系临床表型的主要原因.本例为国内首次发现的KRT1突变引起的EPPK家系.
목적 탐토일개중국한족인표피송해성장척각화병(EPPK)가계적각단백기인KRT1、KRT9、KRT10돌변정황.방법 수집1개EPPK가계적림상자료,제취외주혈DNA,통과PCR확증각단백KRT1、KRT9、KRT10기인편마구적전부외현자급기측익서렬병측서,이표형정상가계성원급50례건강인위정상대조.결과 발현가계내6례환자균존재KRT1기인착의돌변c.1436T>C,도치제479위적이량안산피소안산취대(I479T),재가계중6례정상인급50례대조자미발현상술돌변.결론 착의돌변KRTI적c.1436T>C가능위도치해가계림상표형적주요원인.본례위국내수차발현적KRT1돌변인기적EPPK가계.
Objective To analyze the mutations in keratin 1 (KRT1), KRT9 and KRT10 genes in a Chinese family with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected from a family with EPPK. Genomic DNA was extracted from the peripheral blood of 12 family members, including 6 patients and 6 unaffected members, as well as from 50 unrelated normal human controls. PCR was performed to amplify all the exons and flanking sequences of KRT1, KRT9 and KRT10 genes followed by DNA sequencing.Results A missense mutation C.1436T > C was found in the highly conserved helix termination motif of KRT1 gene of all the patients, resulting in a substitution of isoleucine by threonine at position 479 of the KRT1 protein. No mutation was found in the unaffected members or unrelated controls. Conclusions The missense mutation C.1436T > C in K.RT1 gene is likely to be the main cause of the phenotype of EPPK in this family.This is the first report of a pedigree with KRT1 gene mutation-induced EPPK in China.