用芯片电泳快速检测人p53基因外显子8上的突变点

目的：建立简单快速的分析方法检测基因突变。方法：利用修饰引物进行特异性单碱基延伸，采用Cy5荧光染色标记的ddNTP，并通过芯片电泳来检测。结果：实测了合成人p53基因外显子8上突变点的3种可能形态(野生型，突变型和杂合型)，并测定了一系列不同比例突变率的混合样本，最低至5％突变率。所有样本分别于芯片电泳中在100s之内被检测出来。结论：该方法操作简单易行，可用于快速检测已知的基因突变。

Rapid Detection of the Mutation Point of the Human p53 Gene Exon 8 by Microchip Electrophoresis

AIM:To set up a simple and rapid analytical method to detect the mutation point of gene. METHOD:Combining the modified primer Cy5 dye terminator labelled ddNTP (Cy5-ddNTP) and artificial template to do the specific Single Base Extension (SBE). Using the microchip electrophoresis to detect the product of SBE. RESULT:Three possible types(wild, mutant and heterozygous type) of the mutation point were detected in human p53 gene exon 8. And the microchip electrophoresis can detect the sample within 100 s. CONCLUSION:The method is promising for detecting the mutation point of gene in a short period of time.