Pathology 3240A Lecture 17: Path 3240a Lec 17
Document Summary
Central dogma of molecular biology: flow of genetic information: dna rna protein, dna is transcribed and translated, exceptions (retrovirus, prion) Mutations: defined as permanent changes in dna of our genes. In germ cells: mutation can be transmitted to progeny giving rise to inherited or predisposition to familial cancers. In somatic cells: mutations are not transmitted to progeny: ex. Adding a c randomly in the sequence generating a completely different codon sequence: splicing mutations: caused by inaccurate splicing of introns when making mrna, these are alterations in coding sequence such as adding amino acids, ex. Cag: highly dynamic: it can change in size during gametogenesis. It can cause expansion or contraction so they are highly dynamic. Cag repeats are added on so it could be much longer or shorter. Genetic disorders: sporadic and familial mutations, autosomal and gonosomal mutations, mutations in the chromosomes and sex chromosomes, recessive and dominant mutations, somatic and germ-line mutations.