Point Mutation Studies: Methods of detection
Introduction Mutations are any possible alterations in DNA sequence and sequence organization, from point mutations to genome structural variation, chromosomal aberrations, and aneuploidy. Epi-mutations are defined as alterations in the epigenome, i.e., changes in DNA methylation, histone modification, and small regulatory RNAs. We are fascinated by mechanisms of epi-mutation induction, for example, during DNA repair, replication, or recombination; the landscape of somatic mutations and epi-mutations in cancer and aging; the role of de novo mutations in human disease and aging; the role of epi-mutations in chromatin structure and function; mitochondrial DNA mutations and their consequences in terms of human disease and aging; and novel ways to generate mutations and epi-mutations in cell lines and animal models. The study of genome instability in human molecular epidemiology and in relation to complex phenotypes, such as human disease, is considered a growing area of importance. There ...