D1.3 Mutations and gene editing Flashcards
Define mutation.
A random rare change in genetic material.
Name the three types of mutations.
Substitutions, Insertions, and Deletions
Explain Substitution mutations.
One base paring is replaced by another. (Thymine instead of adenine)
Explain insertion mutations.
Happens when a letter or nucleotide is added to the sequence.
Explain deletion mutations.
When a nucleotide is removed from a gene sequence.
What is a point mutation?
A mutation when only one nucleotide is involved
Is it possible for mutations to involve many nucleotides?
Yes, however they are no longer point mutations
What does the gene GNAT2 control and where is it located?
The gene GNAT2 controls a protein called transducin that enables coloured vision in humans. It is found on chromosome 1.
What Is the mutation resulting in a human not being able to see in colour called?
Achromatopsia, is when GNAT2 has experienced a mutation enabling a persons coloerd vision.
What mutation is the result on one letter being changed in the sequence?
A base substitution mutation is when a gene is altered by a single nucleotide polymorphism (SNP)
What are two possible consequences of a base substitution?
Missense mutation- A different amino acid is coded for, which changes the shape a probably the function of the protein.
Nonsense mutation- A stop codon is created that cuts off gene translation, resulting in no functional protein being made.
Explain what Sickle Cell disease is or Sickle Cell Anaemia.
A mutation found in the gene that codes for hemoglobin in red blood cells. The mutation alters the shape of the molecule. The mutated cells have a curved shape, like a sickle.
GAG becomes GTG instead of adding glutamic acidic the sixth position, valine is added instead
Some symptoms include weakness, fatigue, and shortness of breath.
