Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

ABSTRACT:

Background

One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual assay parameters rather than concentrating on matching conditions for a set of assays. Primers for each individual assay were selected based on location and sequence concerns. The two primer sequences were then iteratively adjusted to make the individual assays work properly. This generally resulted in groups of assays with different annealing temperatures that required the use of multiple thermal cyclers or multiple passes in a single thermal cycler making diagnostic testing time-consuming, laborious and expensive.These factors have severely hampered diagnosti

SUBMITTER: Bennett RR 

PROVIDER: S-EPMC2781300 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature