Pathology 3500 Lecture Notes - Lecture 11: Human Genome, Autosome, Karyotype
Document Summary
In germ cells: can be transmitted to progeny, giving rise to inherited disease, or predisposition to familial diseases/cancer. In somatic cells: not transmitted to progeny: types of mutations, point mutation, frameshift mutation, splicing mutation, repeat expansion or contraction, trinucleotide expansions. Inaccurate splicing of introns: altera coding sequence (ex adding amino acids) Nonmendelian inheritance: trinucleotide/triplet repeat expansion, ex huntington"s disease, fragile x, mitochondrial inheritance (rare, diabetes mellitus and deafness (dad, genomic imprinting, ex prader-willi syndrome, prion diseases, ex creutzfeldt-jakob syndrome (cid) Polyglutamine expansion disorders: cag triplet expansions in dna result in polyglutamine expansions in disease proteins, same mutation in the context of different genes/proteins result in different diseases: Neuropathy (lhon), myoclonic epilepsy, ragged red fibres (merrf) Prion diseases: protein is the sole infectious reagent (no dna or rna required, prp = prion protein, normal form: prpc (cytosolic prp) Not truly infectious: thus, not truly prion diseases; prion-like.
