PCR-SSCP法测定人载脂蛋白E基因型

目的：建立一种既可以测定人载脂蛋白E常见基因型，又可以筛查罕见异构体的新方法。方法：利用RFLP和SSCP法对人载脂蛋白E编码基因的PCR扩增产物进行基因型的检测和分析，采用双脱氧DNA链合成终止法进行PCR产物直接测序，确认基因型的测定结果。结果：两种方法测得的基因型结果完全相符，并经测序证实结果正确。结论：PCR-SSCP法对于单碱基突变的高检出率使其具有筛查罕见异构体的可能，同时该法还可以准确快捷地进行人载脂蛋白E常见基因型的测定。

The genetype of human apolipoprotein E isoform identified by PCR - SSCP analysis

Objective: To establish a new method to screen the rare isform as well as to identify the genetype of the common human apolipoprotein E (apo E) isoform.Methods: Identification of apo E genetypes was carried out by PCR-RFLP and RCR-SSCP analysis. The sequencing of the PCR product was determined by using dideoxy-mediated chain-termination method. Results: The SSCP results agreed with the genetyping results obtained by the RFLP method, and the results were proved to be right by DNA sequence analysis.Conclusion: PCR-SSCP method, which is very useful to screen the rare isform, is also an accurate and rapid means of detecting the apo E isoform genetype.