intrinsic causes of diseases Bianchi Flashcards
what is the mutation?
- Change in the nucleotide sequence of the genome of a living organism, a virus or an
extrachromosomal genetic element
- To be considered mutations, the genetic alterations must be ___________?
stable and heritable
Human genetic disorders can be broadly classified into three categories:
Mutations in single genes (with large effects)
Chromosomal disorders:
Multigenic disorders:
From the etiological point of view, we can distinguish 5 classes of mutations:
1-Spontaneous mutations (molecular decay)
2-Mutations due to by-pass of damaged areas of DNA/RNA by error-prone
polymerases (translesional synthesis)
3-Mutations caused by DNA repair mechanisms
4-Mutations induced by mutagens
5-Mutations induced by the insertion/deletion of mobile genetic elements
i guess it is better to read it from the slides, it is mostly the things we know im too lazy to make flashcards on it