1.4 Protein, Mutations & Genetic Disorders Flashcards
How are proteins held
In a 3D shape held by hydrogen bonds, peptide bonds and sulphide bridges
How do proteins form the 3D shape
Polypeptide chains fold
What does having polypeptide chains arranged in different ways do
Gives rise to the large variety of proteins structures and shapes
What is a mutation
A mutation is a change to the structure of an organisms genome
What can mutations result in
Faulty proteins
Mutations occur
Randomly and rarely
What increases the rate of mutations
Mutagenic agents
Give some examples of mutagenic agents
Cigarette smoke, Uv light and mustard gas
What are genetic disorders related to
A persons genotype
What can mutations cause
A change in the sequence of amino acids which results in the protein it codes for not functioning properly
What are the two types of mutations
Single gene mutations and chromosome structure mutations
What are the types of single gene mutations
Point mutations and frame shift mutations
What are the point mutations
Missense mutations, nonsense mutations and splice site mutations
What are missense mutations
When a nucleotide is subtitled with another nucleotide and another amino acid is coded for
What are nonsense mutations
When one nucleotide gets replaced by another and the resultant codon is a stop codon so the chain is stopped leading to a non functioning protein
