摘要
目的研究多发性皮脂腺囊肿一家系中角蛋白17的基因突变情况。方法收集1个多发性皮脂腺囊肿家系中3例患者及3例表型正常者和50例无亲缘关系健康个体的外周血标本，采用PCR结合DNA直接测序检测角蛋白17基因突变。结果该家系患者角蛋白17基因上第428位碱基胞嘧啶（C）突变为胸腺嘧啶（T），使角蛋白17基因的第1号外显子94位密码子由CGC突变成TGC，第94位精氨酸被组氨酸取代，即R94C突变，而该家系的正常人对照及无亲缘关系健康个体不存在此突变。结论本多发性皮脂腺囊肿家系患者角蛋白17基因存在错义突变（428C→T），这可能是导致多发性皮脂腺囊肿发病的分子机制之一。
Objective To analyse the mutation of K17 gene in a pedigree with steatocystoma multiplex. Methods Blood samples were obtained from 3 affected and 3 normal individuals in a family with steatocystoma multiplex, as well as from 50 unrelated healthy individuals. Mutation scanning was carried out by PCR and direct sequencing. Results A heterozygous nucleotide transition （C→T） at position 428 in exon 1 of K17 gene, which leads to the substitution of CGC （arginine） by TGC （histidine） at codon 94, was detected in the affected individuals, but not in normal family members or the 50 unrelated individuals. Conclusion A missense mutation （428C→T） in K17 gene has been detected in affected individuals of this family, which seems to be a molecular basis of pathogenesis of steatocystoma multiplex.
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2008年第11期714-715,共2页
Chinese Journal of Dermatology
关键词
皮脂腺
囊肿
突变
角蛋白17
Sebaceous glands
Cysts
Mutation
Keratin-17
