Unit 1(1.4)- Genes And Proteins In Health And Diesase Flashcards
What are proteins made up of?
A variety of amino acids.
What we the amino acids in proteins linked by and what does this form?
Peptide bonds and a polypeptide chain.
What can happen if a mutation occurs in the DNA and what can this lead to?
It can have an impact of the structure and type of amino acids coded for.
This can be lethal or can lead to a genetic disorder.
Why do genetic disorders occur?
Caused by changes to gene or chromosomes. (Mutations)
Where can mutations occur?
Within chromosomes or single genes.
When do single gene mutations happen?
When the order of bases in the DNA that a gene is made of is altered.
One example of a single gene mutation.
Cystic Fibrosis.
What are the three different types of single gene mutations?
Substitution, Insertion and Deletion.
What are the three types of single gene substitutions called?
Missense, Nonsense and Splice-site.
What is Missense and one example?
Where one amino acid codon is replaced with another different amino acid codon.
Sickle-cell disease.
What is Nonsense and one example?
Where one amino acid codon is replaced with a premature stop codon.
Duchenne Muscular Dystrophy.
What is Splice-site and one example?
When introns are removed from the primary RNA transcript leaving only the exons which then produces the mature RNA transcript.
Thalassemia.
What do insertion and deletion mutations result in?
Frame-shift mutations.
Why are insertion and deletion negative?
If a nucleotide is inserted or deleted from a gene, every codon after where the mutation has occurred will be altered during transcription.
What happens to the protein produced by insertion or deletion?
It will be non-functional.
