| 초록 |
Single nucleotide polymorphisms (SNPs) are genetic variations in the genome that are present in more than 1% among individuals. Some SNPs are associated with certain disease and may help predict susceptibility to environmental factors. Simplicity, sensitivity, specificity and cost-effectiveness are very important criteria for the development of clinically useful genotyping methods for SNPs. Ligation-dependent method is considered the simplest for clinical diagnosis. However, sensitivity is not guaranteed by itself, and analysis of multiple targets is limited by the detection method. In this study, we employed the ligase detection reaction (LDR) coupled with high-resolution CE-based single-strand conformation polymorphism (CE-SSCP) to develop robust SNP genotyping method. We found that it could not only accurately discriminate base mismatches but quantitatively detect 37 SNPs of the tp53 gene using three-color fluorescence-labeled probes. |
