Human Gene Mutation

An historical view of research into the nature of mutation; an introduction to the structure, function and expression of human genes; human genetic disease and its analysis - an overview; the methodology of mutation detection; indirect analysis of human genetic disease; single base-pair substitutions; gene deletions; gene insertions, duplications and inversions; single base-pair substitutions in mRNA splice junctions; regulatory mutations; mutations affecting RNA processing and translation; the genotype-phenotype relationship. Appendices: direct and indirect analysis of human genetic disease; single base-pair substitution database; deletion database (< than 20bp); examples of splice-site mutations; amino acid symbols and the genetic code; cancer-associated somatic mutations in the human TP53 gene.