检测血液p53基因SNP位点的多态性与病理性瘢痕基因型的相关性

Correlation of polymorphism of SNP locus of blood p53 gene and genotype of pathologic scar

目的探讨p53基因第72位密码子单核苷酸多态性，并分析该多态性位点与病理性瘢痕的相关性。方法常规抽取105例瘢痕患者和190例健康志愿者的血液，提取DNA，设计1对针对p53基因第4外显子第72密码子单核苷酸多态性荧光探针，进行实时定量PCR分析并观察图像。结果实时定量PCR技术检测能准确区分各种基因型，抽取295例血液样品中，基因型CCC有121例，基因型CGC有88例，基因型CCC／CGC有86例，通过PCR荧光分子信标检测p53基因第72密码子单核苷酸多态性的方法。CCC基因型患病理性瘢痕的概率最高，病理性瘢痕患者的年龄及发病部位与基因型有无相关性尚待进一步研究。结论CCC基因型及单核苷酸多态性可能与病理性瘢痕形成相关。

Objective To investigate the 72nd codon single nucleotide polymorphism of p53 gene, and correlation analysis of polymorphism and pathological scar genotype. Methods The blood samples were harvested from 105 scar patients and 190 healthy volunteers with conventional and then the DNAs were extracted from the samples. Two sets of fluorescent probes targeting the 72nd codon of 4th exon in p53 gene were designed. Real-time quantitative PCR analysis and observation of the image were performed. Results Various kinds of genotype could be detected exactly by real-time PCR with the same results as gene sequencing method. Among the 295 blood specimens, CCC genotype was appeared in 121 samples, CGC was in 88 samples and CCC/CGC was in 86 samples. The 72 codon SNP of p53 gene was detected by PCR fluorescent. The highest probability of pathological scar was the patients with CCC genotype. The correlation of patient age and scar position with genotype need the further research. Conclusion The CCC genotype and single nucleotide polymorphism may be relative with the formation of pathological scar.