多发性脂囊瘤一家系临床调查及分子发病机制研究  

Clinical survey and molecular pathogenesis of steatocystoma multiplex in a pedigree

作　　者：任小蓉[1] 黄德顺[1] 魏文利[2] 吴文中[1] 廉翠红[1] 王福喜[1] 张华丽[1] 谢倩[1] 

机构地区：[1]深圳市第二人民医院皮肤科,518035 [2]深圳市第二人民医院检验科,518035

出　　处：《中国药物与临床》2013年第6期712-714,共3页Chinese Remedies & Clinics

基　　金：深圳市科技计划项目(201103109)

摘　　要：目的研究一多发性脂囊瘤(SM)家系KRT17基因的突变情况。方法用聚合酶链反应(PCR)方法扩增家系中2例患者(先证者、先证者父亲)、家系中的2名健康者和与该家系无关的50名健康者的基因组DNA角蛋白K17的外显子1,PCR产物直接进行测序以检测突变。结果在家系中2例患者的角蛋白K17基因第94位密码子由CGC突变为TGC,导致K171A区杂合错义突变R94C,即第94位精氨酸被半胱氨酸取代。而该家系中的2名健康者及与该家系无关的50名健康者未发现此突变。结论在一中国人SM家系中检测到K171A区R94C突变。Objective To investigate keratin 17 （K17） gene mutation in a pedigree with steatocystoma multiplex （SM）. Methods Polymerase chain reaction （PCR） was used to amplify exon 1 of K17 gene from genomic DNA of the two patients （the proband and his father）, two other healthy members in the pedigree, and 50 unrelated healthy volunteers. PCR products were directly sequenced to detect the mutation. Results In the 2 patients of the SM pedigree, the codon 94 （CGC） of K17 gene was mutated to TGC, which means substitution of arginine by cysteine that causes missense mutation （R94C） in the 1A domain of K17, but there was no such mutation observed in the 2 healthy pedigree members and 50 unrelated people. Conclusion Mutation of R94C in the 1A domain of K17 was detected in a Chinese pedigree with SM, which is by far the mutation locus the most commonly detected in SM pedigree.

关 键 词：角蛋白 突变 多发性脂囊瘤 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]