Genetic Control of Protein Structure Flashcards
Which traits are usually gain of function?
Dominant
What are somatic mutations?
- Mutations that affect body cells/tissues
- Not inherited
may still cause disease
What are germ-line mutations?
- Inherited
- Progeny will have mutations in both somatic and germ-line cells
Main difference between somatic and germ-line mutation
Inheritance of mutation
Example of transition mutation
AT to GC. Purine to purine and pyrimidine to pyrimidine
Example of transvehrsion mutation
CG to GC. Purine to pyridine and vice versa
Missense mutation
Different amino acid is formed
Nonsense mutation
Stop codon coded
Neutral mutation
Changes to similar amino acid but no overall change in effect
Silent mutation
Codes for same amino acid due to degenerate nature
Frameshift
addition/deletion of non-multiple of 3 nucleotides. Shifts reading frame
What chemical agent can cause addition/deletion mutations?
Ethidium bromide
Which transmembrane protein is affected in cystic fibrosis?
Cystic fibrosis transmembrane conductance regulator (CFTR)