Method for the detection of genetic diseases and gene sequence variations by single nucleotide primer extension

摘要

Method for screening a sample oligonucleotide for a variation in sequence at a predetermined position thereof relative to a nucleic acid the sequence of which is known, wherein the sample oligonucleotide is provided as a single stranded molecule, the single stranded molecule is mixed with an inducing agent, a labeled nucleotide, and a primer having a sequence identical to a region flanking the predetermined position to form a mixture, the mixture having an essential absence of nucleotides constituted of bases other than the base of which the labeled nucleotide is constituted, the mixture is subjected to conditions conducive for the annealing of the primer to the single stranded molecule and the formation of a primer extension product incorporating the labeled nucleotide, and the mixture is analyzed for the presence of primer extension product containing labeled nucleotide.