U1 KA4 Flashcards
What is a mutation?
A change to the genetic structure of an organism.
What is a genetic disorder.?
Coni dit ion or disease that can be shown to be directly related to an individuals genotype.
What are the different Categories of mutation?
Single gene & chromosomal.
What is single gene mutations?
Involves the alteration of DNA nucleotide sequence within a single gene.
What is chromosomal structure mutations?
Involves a change in the structure of a chromosome(s) -which means a lot of genes are involved.
What are the types of mutations caused by nucleotide substitution?
Missense
Nonsense
Splice-sense mutations.
What’s missense mutations?
Results in one amino acid being changed for another.
What does missense mutation result in?
Results in non-functioning protein or have little effect on the protein.
What is nonsense mutation?
When a premature stop codon is produced.
What does a nonsense mutation result in?
Shorter protein.
What is a splice-site mutation?
Some introns are retained and/or some exons not being included in mature transcript.
Describe the effect on the protein that frame shift ( insertion/deletion)mutation causes ?
Every codon from the site of mutation to be altered and therefore every amino acid coded for will be altered. As a result the protein will not be able to function properly.
Substitution mutations Vs insertion&deletion mutations
I+D= caused by insertion/removal leads to all codons and amino acids to be effected.
S= only effects 1 amino acid.
Chromosome structure mutations are?
Lethal.
What does chromosome structure mutations involve?
Substantial changes in the structure of chromosome.
