UNIT 1 - KA4 Flashcards
What are mutations
Mutations are changes in the DNA that can result in no protein or an altered protein being synthesised
What is a mutation the change of
A mutation is a change to the genetic structure of an organism
What is a genetic disorder
A genetic disorder is a condition or a disease that can be show to be directly related to an individuals genotype
What is a chromosomal structure mutation
chromosomal structure mutations which involve a change in the structure of a chromosome ( this means a lot of genes are involved not just one)
What is single gene mutation a result of
Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of substitution , insertion or deletion of nucleotides
What are the types of mutations all caused by substitution (single gene mutation)
1- missense
2- nonsense
3- splice site mutations
Missense mutation
Missense mutations result in one amino acid being changed for another. This may result in a non - functional protein or have little effect on the protein
Nonsense mutations
Nonsense mutations result in a premature stop codon being produced which results in a shorter protein
Splice site mutations
Splice site mutations result in some introns being retained and/or some exons not being included in the mature transcript
What are the frame shift mutations
Nucleotide insertions or deletions result in FS mutations
What effect does frame shift mutation have on the protein
As a result it is highly likely that the altered protein will not be able to function properly
What is the effect of substitution mutations compared to insertion and deletion mutations on the protein produced
Frame shift mutations (caused by insertion and deletion) cause all of the codons and all of the amino acids after the mutation to be changed. Whereas substitution mutations only effect a single amino acid
What are the chromosome structure mutations
The mutations can be classes as : duplication, deletion, inversion and translocation
What is deletion
Deletion is where a section of a chromosome is removed
What is duplication
Duplication is where a selection of a chromosome is added from its homologous parter