Mutations & Genomics Flashcards
What is a mutation?
A change in DNA
What are the 2 possible results of a mutation?
- No protein being made
2. An altered protein being made
What is a single gene mutation?
A change in a single nucleotide
Name the 3 types of single gene mutation.
- substitution
- insertion
- deletion
What name is given when a protein of some form is made but it is not what was originally intended?
missense
What causes a nonsense mutation?
A premature stop codon
What name is given to a mutation where introns are mistakenly retained or exons are mistakenly removed?
splice-site mutation
Name the type of single gene mutations that result in a frameshift mutation?
insertion and deletion
What is the consequence of a frameshift mutation?
All the amino acids after the point of mutation will be changed
Name the 4 types of chromosome mutation.
- duplication
- deletion
- inversion
- translocation
What is usually the result of a chromosomal mutation?
death
Describe inversion.
A section of the chromosome is reversed
Describe a chromosome deletion mutation.
A section of the chromosome is removed.
Describe translocation.
A section of a chromosome is added to a chromosome that is not its homologous partner
Describe duplication.
One of more copies of a region of a chromosome.
