Mutations Worksheet There are two main types of mutations: Point Mutations (Silent, Missense, Nonsense) and Frameshift mutations (Insertion, Deletion). In each of the following DNA sequences, you will use the mRNA and the amino acid sequences to identify the mutation that occurred and the effects of each, using your knowledge of the chemical properties of amino acids. Look and analyze carefully!! Original DNA Sequence: T A C A C C T T G G C G A C G A C T mRNA Sequence: _____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Mutated DNA Sequence #1: T A C A T C T T G G C G A C G A C T mRNA Sequence (circle the change): ____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Effects to the protein’s shape: _________________________________________________________ Type of Mutation: ___________________________________________________________________ Mutated DNA Sequence #2: T A C G A C C T T G G C G A C G A C T mRNA Sequence (circle the change): ____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Effects to the protein’s shape: _________________________________________________________ Type of Mutation: ___________________________________________________________________ Mutated DNA Sequence #3: T A C A C C T T A G C G A C G A C T mRNA Sequence (circle the change): ____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Effects to the protein’s shape: _________________________________________________________ Type of Mutation: ___________________________________________________________________ Mutated DNA Sequence #4: T A C A C C T T G G C G A C T A C T mRNA Sequence (circle the change): ____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Effects to the protein’s shape: _________________________________________________________ Type of Mutation: ___________________________________________________________________ Mutated DNA Sequence #5: T A C A C C T T G G G A C G A C T mRNA Sequence (circle the change): ____________________________________________________ Amino Acid Sequence: _______________________________________________________________ Effects to the protein’s shape: _________________________________________________________ Type of Mutation: ___________________________________________________________________ Research! Research ONE of the following diseases caused by a gene mutation and answer the questions below. Sickle Cell Disease Cystic Fibrosis Duchenne Muscular Dystrophy Name of Disease: _____________________________________________ What are the main symptoms?: __________________________________ Betathalassaemia ____________________________________________________________ Hurler syndrome Dravet syndrome ____________________________________________________________ Epidermolysis bullosa How is it diagnosed?: __________________________________________ SOD1 mediated ALS ____________________________________________________________ Tay-Sachs disease Familial hypercholesterolaemia Morbidity (how many people have it?): ____________________________ Other interesting facts (2+): _____________________________________ CCR5 delta 32 HIV resistance Crohn’s Disease ____________________________________________________________ Smith-Magenis Syndrome ____________________________________________________________ Hypertrophic cardiomyopathy Type of Mutation: _____________________________________________ Hydrophilic Hydrophobic Charged + Charged -
