DNA Mutations Flashcards
Where do mutations occur when they are
- Somatic
- Germ-line
- Autosomal
- X-linked and Y-linked
Somatic - any cell except germ cells
Germ-line - Gametes
Autosomal - Autosomes
X + Y - linked - Genes on the X and Y chromosomes
What are the 3 point mutations and what are the outcomes
Silent - new codon still codes for the same AA
Missense - new codon codes for different AA
Nonsense - new codon codes for a stop codon
Point mutations can be transitions or transversions - explain
Transition - Pyrimidine replaces a pyrimidine and purine replaces purine
Transversion - Pyrimidine and purine are interchanged
What is the reason for a frameshift mutation
Insertion or deletion of base
Give 3 examples of diseases caused by mutations and the type of mutation that ocurred
Sickle-cell anemia - base substitution
Muscular dystrophy - insertion or deletion
Cystic fibrosis