LIGASE / POLYMERASE-MEDIATED ANALYSIS OF GENETIC ELEMENTS OF SINGLE-NUCLEOTIDE POLYMORPHISMS AND THEIR USE IN GENETIC ANALYSIS

摘要

A method is provided for determining the identity of a nucleotide at a preselected site in a nucleic acid molecule. The method involves the incorporation of a nucleoside triphosphate that is complementary to the nucleotide present at the preselected site onto the terminus of a primer molecule, and their subsequent ligation to a second oligonucleotide. The reaction is monitored by detecting a specific label attached to the reaction's solid phase or by detection in solution.