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.
What do we call the entire hereditary information found within an organism’s DNA?
genome
What term is used to describe the use of genome information in the choice of drugs?
pharmocogenetics
What term is used to describe the use of an individual’s genome sequence can be used to give the most effective drugs and dosage?
personalised medicine
What name is given to the use of computer programmes and statistical analyses to compare sequence data?
bioinformatics
What do we call the ordering of the bases/nucleotides within a gene or genome?
Genomic sequencing
