HHB 1.4 Mutations and 1.5 Human Genomics

State the term used to describe a random, spontaneous change to DNA in a cell.

Identify two potential consequences of a mutation to DNA in a cell.

• Over production of a protein

• Absence of a protein

• Production of an altered protein

• Duplicate proteins being produced

Which type of mutation occurs within genes and involves changes to the DNA nucleotide sequence?

• Single gene mutations

• Inversion

• Duplication

• Translocation

Which of the following is an example of a nucleotide substitution mutation?

• Inversion

• Translocation

• Insertion

• Missense

Identify the type of nucleotide substitution which can result in a premature stop codon being produced, therefore producing a shorter protein.

• Duplication

• Deletion

• Missense

• Nonsense

Identify the type of nucleotide substitution which results in one amino acid being changed for another.

• Inversion

• Deletion

• Missense

• Splice site

Identify the type of nucleotide substitution which may result in introns being obtained in the mature transcript.

• Inversion

• Deletion

• Missense

• Splice site

Identify two examples of frameshift mutations from the list below.

• Nonsense

• Insertion

• Splice site

• Deletion

• Missense

Which type of mutation causes all the codons and all the amino acids after the mutation to be altered?

• Frame-shift mutation

• Point mutation

State the name given to rod-like structures containing genetic material of an organism, that can be found in the nucleus of a cell.

• Chromosomes

• Proteins

• DNA

• Polymerase