Mutations Flashcards
What is the frequency of a mutation?
Arise spontaneously, at random and rarely
Name 3 mutagenic agents and state what these causes mutations
Mustard gas, X-rays and UV lights. Artificially increase rate of mutations
What is a genetic disorder?
A condition/disease that is directly related to an individual’s geno type
What must proteins have to function properly?
Correct sequence of amino acids
What is single gene mutation?
Alteration of a nucleotide sequence
What is point mutation?
Change in one nucleotide
What are the 3 different types of point mutation?
Substitution
Insertation
Deletion
What is a missense mutation?
Following substitution, an amino acid is coded for that makes sense but not original sense
What happens if one or more introns have been retained by modified mRNA?
Results in a protein that doesn’t function properly
What is a mutation?
Change in structure/composition of genome
What is frame shift mutation?
All amino acids are altered
What is chromosome structure mutation?
Brings about a change in the number of sequence of genes in a chromosome
Why is chromosome structure mutation often lethal?
Due to the loss of several functioning genes
What does this type of mutation involve?
The breakage of one or more chromosome; the broken end is sticky which can join together with another broken end
What are the 3 types of chromosome structure mutations?
Deletion
Duplication
Translocation
What happens in the chromosome structure of deletion?
A chromosome breaks in two places and a segment becomes detached
Why does deletion normally have a drastic effect?
‘Shorter’ chromosome lacks certain genes
What happens in duplication?
A segment of genes deleted from its matching partner becomes attached to one end of the first chromosome or inserted somewhere along its length
What does duplication result in?
A set of genes being repeated
What is duplication a common cause of?
Cancer
What happens in translocation?
A section of one chromosome breaks off and becomes attached to another chromosome that is not its matching partner
What is translocation the most common type of?
Mutation associated with cancer
What are the two types of translocation?
Non reciprocal and reciprocal
