p53基因突变检测方法的演进和趋势

Evolution and trends of the detection methods for p53 gene mutation

p53基因是肿瘤蛋白P53(tumor protein p53)的编码基因,在维持基因组稳定、调控细胞周期和凋亡及抑制肿瘤血管生成中发挥着重要的作用。p53基因突变信息在肿瘤分子筛查诊断、预防、药物疗法选择等方面具有重要的参考价值。本文分析了p53基因与P53蛋白突变检测的重要性、突变检测方法的发展概况,如传统的DNA测序、限制性片段长度多态性(restriction fragment length polymorphism,RFLP)、单链构像多态性(single-stranded conformation polymorphism,SSCP)等8类实验室常规基因突变检测策略及酵母中分离的等位基因功能分析技术(separation of gene function analysis in yeast,FASAY),近年来新兴的技术包括生物传感器、芯片、高分辨率溶解曲线(high resolution melting,HRM),及下一代测序技术,以期较为全面地展示现今p53及P53突变检测的整体情况,为p53或其他基因突变研究者选择突变检测方法提供参考。

p53 gene is the tumor protein P53-coding-gene. Tumor protein P53 plays important roles in keeping genomic stability, regulating and controlling cell cycle and cell apoptosis as well as suppressing angiogenesis of tumors. p53 gene mutation information can provide great reference value for molecular screening or diagnosis, prognosis of tumors and optimal choices in drugs or treatments, etc. By analyzing or introducing p53 gene and protein P53 and the importance of their mutation detection, development status of methods for their mutation detection, such as 8 categories of traditional and conventional laboratory methods including DNA sequencing, restriction fragment length polymorphism（RFLP）, single-stranded conformation polymorphism（SSCP）and separation of gene function analysis in yeast（FASAY）,and emerging technologies including bio-sensor chip, high resolution melting（HRM） and the next generation sequencing technology. This review may help readers quickly learn the overall situation of mutation detection of p53 and P53 and provide investigators with useful reference on the p53 and other gene mutation detection methods.