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

发布时间：2018-11-08 18:44

【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。
[Abstract]:Objective to investigate the mutation sites of Cx26,Cx32 gene and Ras family gene in pathological scar and scar carcinoma. Methods DNA, was extracted from 28 paraffin-embedded tissues (14 cases of scar and 14 cases of cicatricial carcinoma). Cx26,Cx32,K-ras,N-ras,H-ras gene mutation was screened by PCR amplification and direct sequencing. Results 7 cases of Cx26 gene were amplified by PCR reaction, including 6 cases of scar and 1 case of scar carcinoma. 4 cases of scar Cx26 gene were found to have benign mutation. For two different types of polymorphic base mutations, 6 target bands were amplified from Cx32 gene by PCR reaction, including 4 scars and 2 scar carcinomas. No pathogenicity or non-pathogenic mutation sites were found in all of them by sequencing. DNA, was extracted from paraffin embedded tissues (28 samples) for PCR reaction and the target fragments were amplified successfully. However, no mutation at codon 12 and 13 of H-rasnras and K-ras genes was found by sequencing. Conclusion the mutation site of Cx26,Cx32,H-ras,N-ras,K-ras gene in skin scar and scar carcinoma needs to be further demonstrated.
【作者单位】：遵义医学院珠海校区病理学教研室;
【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)
【分类号】：R739.5

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