DETECTION OF DISEASE RELATED GENE MUTATIONS BY SINGLE MOLECULE AMPLIFICATION WITH MULTIPLEX LIGATION ASSAYS

摘要

Taught herein is a method of multiplexing mutation detection strategy of the PASS platform using oligonucleotide ligation assay. To increase the throughput of mutation detection procedure of the PASS platform, oligonucleotide ligation assay (OLA) replaces single-base extension (SBE), which allows for interrogation of multiple drug-resistance mutations in each base-detection cycle. Also taught herein is the development of a new generation of PASS platform using bridge PCR amplification. The entire procedure may be automated so that a new generation of PASS platform is suitable for routine clinical practice.