病理性瘢痕和瘢痕癌中Cx26,Cx32和Ras家族基因突变位点的检测  

Detection of Gene Mutation Sites of Cx26,Cx32 and Ras Family in Skin Pathological Scar and Scar Carcinoma Tissues

作　　者：郭瑞珍[1] 

机构地区：[1]遵义医学院珠海校区病理学教研室,广东珠海519041

出　　处：《中国皮肤性病学杂志》2015年第2期118-121,共4页The Chinese Journal of Dermatovenereology

基　　金：贵州省科技攻关项目(2010-3080);遵义医学院自然科学类招标课题(F-552)

摘　　要：目的观察病理性瘢痕和瘢痕癌中Cx26,Cx32基因及Ras家族基因突变的位点并探讨其意义。方法从28份(瘢痕和瘢痕癌各14例)石蜡包埋组织中提取DNA,用PCR扩增及扩增目的片段直接测序的方法,对Cx26,Cx32,K-ras,N-ras,H-ras基因进行突变筛查。结果 Cx26基因经PCR反应后均扩增出目的条带有7例,其中6例瘢痕,1例瘢痕癌,发现4例瘢痕Cx26基因有良性突变,为两种不同类型的多态性碱基变异。Cx32基因经PCR反应后均扩增出6例目的条带,其中4例瘢痕,2例瘢痕癌,测序分析均未见致病性与非致病性突变位点。从石蜡包埋组织(28例样本)中提取DNA,进行PCR反应后均成功扩增出目的片段,但测序未发现H-ras,N-ras和K-ras基因的第12和第13位密码子点突变。结论在皮肤瘢痕和瘢痕癌中,Cx26,Cx32,H-ras,N-ras,K-ras基因突变位点还有待于进一步论证。Objective To explore of gene mutation sites of Cx26, Cx32 genes and Ras family （ H-ras/ N-ras/ K-ras ） in skin pathological sear and sear carcinoma tissues. Methods To analyze the frequency and characteristics of Cx26,Cx32,H-ras,N-ras, K-ras gene mutations in Chinese. DNA was extracted 28 paraffin-embedded tissues （14 pathological skin scar and 14 pathological skin scar carcinoma） and screened for mutations in Cx26, Cx32,H-ras,N-ras,K-ras genes by direct sequencing alter PCR. Results The mutation of Cx26gene was ana- lyzed by direct sequencing,7 target DNA fragments of 28 samples were amplified with which contains six skin sears and one carcinoma tissue, and detected two polymorphism sites in them by DNA sequencing. The muta- tion of Cx32gene was analyzed by direct sequencing,6 target DNA fragments of 28 samples were amplified with which contains four skin scars and two carcinomas and detected none mutation in them by DNA sequencing. The point mutation analysis of Ras family：Using PCR, the 28 samples were succeed to enlarge the gene piece of H-ras,N-ras and K-ras. The codons 12 and 13 of H-ras, N-ras and K-ras genes were not examined to have the mutation after sequencing. Conclusion The mutation of Cx26, Cx32, H-ras, N-ras and K-ras genes and their effects on skin scar and the carcinogenesis of scar carcinomas should be further explored.

关 键 词：皮肤病理性瘢痕 瘢痕癌 基因 突变 

分 类 号：R739.5[医药卫生—肿瘤]