MUTATION DETECTION IN HIGHLY HOMOLOGOUS GENOMIC REGIONS

摘要

The present invention relates to methods, kits, primers and probes for use in distinguishing highly homologous genomic regions and detecting variants in a locus of interest. In one aspect, the present invention is useful for distinguishing Exon 9 of the CFTR gene from a large homologous region of chromosome 20 in order to determine the presence of the A455E variant.