TRAC 19: Mutation Detection and Analysis: Molecular Approaches

The detection of mutations and their molecular basis has become a very important aspect of molecular medicine as well as environmental effects studies. A variety of techniques have been developed to identify deletions, insertions, and point mutations in DNA as well as chromosome aberratons that can lead to genetic disorders.

This 3 day lecture/laboratory course will provide the participant with an understanding of the most current electrophoretic, chemical, enzymatic, molecular biological and in vitro approaches to mutation detection and analysis of chromosomal and mitochondrial genes.

TOPICS: Mechanisms of Mutagenesis; Chemical approaches to Mutation Detection - HOT; Mutational Analysis Using Enzymatic Reactions - Ribonuclease and T4 Endonuclease VII Assays for Point Mutations; Triplet Repeat Analysis Using RED; Molecular Biological Approaches for Mutation Detection and Quantitation - PCR/RFLP, Competitive Primer Extension, Ligase Chain Reaction, and Oligonucleotide Arrays. The Protein Truncation Test (PTT) and in vitro Mutagenesis Strategies; SNPs; Multiplex PCR; Binary Probes.