METHODS OF DETECTING DIFFERENCES IN GENOMIC SEQUENCE REPRESENTATION

摘要

The invention relates to methods of genotyping the differential representation of one or more target genomic DNA sequences in a genomic DNA sample relative to a reference genomic DNA sample. The method uses tagged primer extension in which a set of tag sequences correspond to the identity of the elected target DNA sequence. Primer extension products are PCR amplified using a common set of tag-specific primers, the downstream primers bearing distinguishable labels. Following separation by size and/or charge, the detection of distinguishable label in a product of the anticipated size determines the identity and representation of the target DNA sequence in the sample. The method is well-suited for the genotyping of multiple target DNA sequence differences in one series of reactions.