METHODS FOR HIGH SENSITIVITY DETECTION OF GENETIC POLYMORPHISMS

摘要

Multiplex PCR-based methods for detecting a variant polynucleotide having a nucleotide sequence differing from the wild-type nucleotide sequence of a nucleic acid molecule, wherein the variant polynucleotide is in a sample containing an excess of the wild-type nucleic acid molecule. The methods are particularly useful for detection of deletions from, or translocations and inversions in, genomic DNA. The susceptibility to, diagnosis of, and progression of a disease clinically related to the occurrence of such polymorphisms in an individual may also be confirmed and monitored using the multiplex PCR-based methods or by detecting RNA fusion transcripts in a sample that correspond to previously identified deletions, translocations or inversions in genomic DNA.