Genetic Variation Flashcards
1
Q
What is the Central Dogma
A
DNA -> RNA -> Protein
2
Q
What is an SNP?
A
Single nucleotide polymorphism (point mutation)
3
Q
What is an Indel?
A
Insertion or deletion
4
Q
What is a synonymous substitution?
A
The amino acid coded for does not change
5
Q
What is a non-synonymous substitution?
A
The amino acid is changed and therefore so is the protein which is coded for
6
Q
Example of an SNP?
A
Sickle cell anaemia - a non-functional protein is coded for
7
Q
Example of a premature stop codon?
A
Dystrophin - loss of gene function on the X chromosome results in severe muscle wasting
8
Q
Example of a deletion (frameshift mutation)?
A
CCR5-Delta32 - a transmembrane protein is altered, giving HIV resistance
9
Q
Most recessive alleles code for…
A
…a loss of function
