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HHB 1.4 RR Quiz Qs
RR Qs
14
Biology
Not Applicable
03/29/2022

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Cards

Term
What is a mutation?
Definition
A change to the DNA
Term
What is happens in single gene mutations?
Definition
the sequence of DNA nucleotides is altered
Term
Name the 3 different types of single gene mutation
Definition
Substitution, Insertion and Deletion
Term
Name the three types of substitution mutations.
Definition
missense, nonsense & splice site
Term
Describe a missense mutation
Definition
One amino acid is changed for another
Term
What could be the result of a missense mutation?
Definition
a non-functional protein or little effect on the protein
Term
What is the result of a nonsense mutation?
Definition
a shorter protein is formed
Term
The name given to the mutation resulting in a premature stop codon is produced
Definition
Nonsense
Term
Name the type of mutations which can be described as frameshift
Definition
Insertion and deletion
Term
Why do frameshift mutations have a major effect on the structure of the protein produced?
Definition
all the codons , and so all of the amino acids after the mutation are changed
Term
What are the two possible outcomes of a splice site mutation?
Definition
some intons may be retained and /or some exons not being included in the mature transcript
Term
Name 4 types of chromosome structure mutations
Definition
Duplication, translocation, inversion and deletion
Term
Describe a translocation mutation
Definition
A section of chromosome is added to a chromosome, not its homologous partner
Term
What is the name for the mutation where a section of chromosome is reversed?
Definition
Inversion
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