MT 203: CYTOGENETICS
GENE MUTATION WORKSHEET
NAME: _______________________________________________ YEAR AND SECTION: _________________________
DATE: _______________________________________________
A. INSTRUCTION: Given the wild-type sequence, identify if the mutation is a MISSENSE, SILENT, NONSENSE, DELETION, or INSERTION. (Note:
You will make use of the genetic code).
Normal Sequence
DNA sequence TAC CAC GTG CGC TTA CAG TAG CAG GGT ATG CCC GTA ATC
mRNA sequence AUG GUG CAC GCG AAU GUC AUC GUC CCA UAC GGG CAU UAG
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Isoleucine-Valine-Proline-Tyrosine-Glycine-Histidine-STOP
1. Mutated:
DNA sequence TAC CAC GTG CGC TTA CAG TTG CAG GGT ATG CCC GTA ATC
mRNA sequence AUG GUG CAC GCG AAU GUC AAC GUC CCA UAC GGG CAU UAG
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Asparagine-Valine-Proline-Tyrosine-Glycine-Histidine-STOP
2. Mutated:
DNA sequence TAC CAC GTG CGC TTA CAG TAG CAG GGT TGC CCG TAA TC
mRNA sequence AUG GUG CAC GCG AAU GUC AUC GUC CCA ACG GGC AUU AG
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Isoleucine-Valine-Proline-Threonine-Glycine-Ileucine
3. Mutated
DNA sequence TAC CAC GTG CGC TTA CAG TAG CAG GGT ATC CCC GTA ATC
mRNA sequence AUG GUG CAC GCG AAU GUC AUC GUC CCA UAG
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Isoleucine-Valine-Proline-STOP
4. Mutated
DNA sequence TAC CAG GTG CGC TTA CAG TAG CAG GGT ATG CCC GTA ATC
mRNA sequence AUG GUC CAC GCG AAU GUC AUC GUC CCA UAC GGG CAU UAG
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Isoleucine-Valine-Proline-Tyrosine-Glycine-Histidine-STOP
5. Mutated
DNA sequence TAC CAC GTG CGC TTA CAG TAG CAG GGT ATG CCC GTA AAT C
mRNA sequence AUG GUG CAC GCG AAU GUC AUC GUC CCA UAC GGG CAU UUA G
Amino acid sequence Methionine-Valine-Histidine-Alanine-Asparagine-Valine-Isoleucine-Valine-Proline-Tyrosine-Glycine-Histidine-Leucine
B. INSTRUCTION: Encircle the letter of your answer. B. Deletion Mutation D. Chromosomal Mutation
6. What is a gene mutation? 11. A nucleotide base is inserted or deleted shifting the entire DNA
A. A change in the number of chromosomes sequence. Entire protein will be changed.
B. The deletion of an entire gene A. Silent mutation C. Frameshift mutation
C. A change in the sequence of DNA B. Substitution mutation D. Translocation
D. The formation of new cells
12. Mutations affect the ________ of a protein. Because of this the
7. Which of the following is an example of a point mutation? proteins ______ is affected as well.
A. Deletion C. Substitution A. gene, function C. shape, function
B. Insertion D. Duplication B. sequence, gene D. sequence, shape
8. Frameshift mutations are caused by 13. Why are insertion and deletion mutations so harmful?
A. Substitution C. Duplication A. They often delete things that organisms need.
B. Deletion/Insertion D. Translocation B. They change all of the codons from the mutation on down
the line, which changes the amino acid sequence
9. A frameshift mutation where a nucleotide base is removed from C. They insert things that an organism doesn't need.
the DNA sequence. D. Insertion and deletions are not any more harmful than
A. Deletion Mutation C. Substitution Mutation substitution mutations.
B. Silent Mutation D. Translocation
10. A frameshift mutation where a nucleotide base is added to the
DNA sequence
A. Insertion Mutation C. Substitution Mutation
C. INSTRUCTIONS: Write the word MUTATION if the statement is
TRUE and MUTANT if the statement is FALSE.
14. A silent mutation does not affect the protein produced.
___________________________________________
15. All mutations are harmful.
__________________________________________
16. A substitution mutation always leads to a frameshift.
17. All mutations lead to changes in the protein’s function.
___________________________________________
18. Environmental factors like UV light can cause mutations.
___________________________________________
19. Sickle cell disease results in an amino acid substitution that
causes the red blood cell to assume a shape in places where
oxygen level is low that blocks circulation.
____________________________________________
20. A silent mutation is an amino acid substitution.
____________________________________________
21. A jumping gene can disrupt gene function by altering the
reading frame or shutting off transcription.
____________________________________________
22. Copy number variants differ by the number of copies of genes.
____________________________________________
23. Retention of an intron and expanding triplet repeats cannot
provide a new function for a gene, therefore may not cause
disease.
____________________________________________
24. Mutations in the 3rd base position of a codon can be silent.
____________________________________________
25. Mismatch repair corrects replication errors.
____________________________________________
D. INSTRUCTION: Match column A to column B. Write only the letter
of your answer on the space provided before each number.
A B
_____26. Deletion A. Leads to an early stop
_____27. Insertion codon, stopping protein
_____28. Substitution synthesis early
_____29. Nonsense mutation B. Does not alter the protein
_____30. Silent mutation since the amino acid remains
the same
C. Shifts the reading frame,
altering all downstream codons
D. An extra nucleotide is added
E. A nucleotide is replaced with
a different nucleotide
F. A nucleotide is removed
from the DNA sequence
