| 摘要 |
The present invention provides methods, compositions and kits for determining the identity of a nucleotide at a variant site in a nucleic acid of interest, including point mutations and single nucleotide polymorphisms. The methods utilize one or more nucleotides, each nucleotide being a mixture of labelled and unlabelled forms, to generate labelled extension products that are characteristic of the nucleotide at the variant site in the nucleic acid of interest. In addition to their utility in detecting and analyzing point mutations and SNPs, the methods and kits of the invention have utility in a variety of other applications in which specific nucleic acid sequence information is of value, including detection of pathogens, paternity disputes, prenatal testing and forensic analysis. |
