BIOL 312 Lecture Notes - Lecture 11: Missense Mutation, Frameshift Mutation, Nonsense Mutation

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16 Oct 2019

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Lecture 11

Microbial Genetics 2:

Mutations = changes in genetic material

●Point mutations = change in 1 nucleotide (single base – can change reading

frame/ amino acid/ protein!)

●Spontaneous mutations = arise naturally – in absence of mutagenic agent

(accidents during replication)

●Induced mutations = result of a mutagen

Mutations in protein-coding genes:

●Silent mutation – difference in nucleotide (base) but not amino acid/protein

●Missense mutation – change in nucleotide sequence – changes 1 amino acid!

●Nonsense mutation – change in nucleotide results in STOP codon – can cut off

production of protein

●Frameshift mutation – insertion/ deletion nucleotide changes the sequence/frame after

** Be able to ID type of mutation – will give normal template to compare!

Other types of mutations:

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Part B

Think about the DNA coding sequence of a gene. If an A were swapped for a T, what kind of mutation could it cause and why?

a) It could cause a frameshift nonsense or frameshift missense mutation because it would change the reading frame of the codon triplet.

b) It could cause a silent, missense, or nonsense mutation because those are the types that can be caused by a nucleotide-pair substitution like this one.

c) It could cause a nonsense mutation because the sequence would no longer be the same, so the protein would be shorter and non-functional.

d) It could cause a silent mutation because A and T are complementary to each other so it is not really a substitution mutation.

Part C

Why is a frameshift missense mutation more likely to have a severe effect on phenotype than a nucleotide-pair substitution missense mutation in the same protein?

a) A substitution missense mutation causes the protein to be shorter and thus non-functional.

b) A frameshift missense will cause the codons to be out of order, but a substitution missense does not change the order of the codons.

c) A frameshift missense mutation will cause an early Stop codon, but a substitution missense might be silent.

d) A substitution missense affects only one codon, but a frameshift missense affects all codons downstream of the frameshift.

Part D

Which of the following sequences shows a frameshift mutation compared to the wild-type mRNA sequence?

a) wild-type	5â-AUGCAUACAUUGGAGUGA-3â
mutant	5â-AUGCAUACAGAGUGA-3â

b) wild-type	5â-AUGCAUACAUUGGAGUGA-3â
mutant	5â-AUGCAUACGUUGGAGUGA-3â

c) wild-type	5â-AUGCAUACAUUGGAGUGA-3â
mutant	5â-AUGCAUACAUCUGGAGUGA-3â

d) wild-type	5â-AUGCAUACAUUGGAGUGA-3â
mutant	5â-AUGCAUGUGACAUUGGAGUGA-3â

Part F

Suppose that the triplet of nucleotides indicated in bold (AGC) spans two codons, that is, CTA and GCC. If the triplet AGC were deleted from this DNA coding sequence, what effect would it have on the resulting protein?

5â-ATGCTAGCCTATCGTAAC-3â

a) The two flanking codons would be altered, but the rest of the amino acid sequence would be the same because there would be no frameshift.

b) The entire amino acid sequence would be altered due to the frameshift.

c) All of the amino acids after the deletion would be altered due to the frameshift.

d) All of the amino acids up to the deletion would be altered due to the frameshift.

mauvetrout554

1. An occurrence of a gene made larger by trinucleotide repeats is:

Allelic expansion

Nucleotide expansion

Translocation mutation

Transformation

2. a chemical that can damage and/or change DNA is called a/an:

Allele

Endonuclease

Vector

Mutagen

3. An occurrence when a section of a chromosome relocates itself to an entirely different (non-homologous) chromosome is called a/an:

Inversion mutation

Translocation mutation

Transformation mutation

Duplication mutation

4. The tandem repeat in the sequence GGGAAGGGAAGGGAAGGGAAGGGAAG is:

GGA

GGGAA

GGAAG

GGAAGGG

A disease characterized by abnormally shaped hemoglobin is called:

Cystic Fibrosis

Sickle Cell Anemia

Marfan Syndrome

Leukemia

5. A point mutation that causes a substitution of a stop codon with an amino acid and leads to the formation of a longer protein is a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

6. Addition or deletion of nucleotides in a DNA sequence is known as a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

7. The least severe type of chromosomal mutation is:

Point

Frameshift

Inversion

Translocation

8. Chemicals inserting themselves into DNA can cause a:

Missense mutation

Nonsense mutation

Sense mutation

Frameshift mutation

9. A genetic condition caused by allelic expansion is:

Familial hypercholesterolemia

Fragile X syndrome

Alkaptonuria

Galactosemia

10. Which of the following is most likely the original DNA strand if the mutated DNA strand is ATAGUUGATGUA ?

ATAGAAGATGAA

ATAGCCGATGCA

ATAGGGGATGGA

ATAGTTGATGTA

11. An unbalanced chromosomal mutation would include a/an:

duplication (insertion)

inversion

translocation

denaturation

12. Many translocation mutations are found to be involved with:

cancers

sickle cell anemia

Huntington disease

cystic fibrosis

13. A common repeat throughout the human genome that is approximately 300 bases in length is called a/an:

EcoRI repeat

Hind repeat

Exo repeat

Alu repeat

14. A balanced chromosomal mutation includes:

imprintation

denaturation

inversion

deletion

salmondinosaur263

QuestionGroup: #21 Gene expression 2

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Homework

The direct end result of gene expression is which of the following?

Amino acids

Translation

Proteins

Carbohydrates

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QuestionGroup: #22 Mutation

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Which of the following is the ways in which nucleotide mutations lead to altered proteins?

One nucleotide is substituted by another nucleotide, which can cause an early stop codon to be incorporated into the amino acid sequence resulting in a truncated protein.

One nucleotide is replaced by another nucleotide, which can change an amino acid in the protein sequence

Nucleotides are inserted into a nucleotide sequence causing a frameshift in the sequence.

All three choices may cause mutations.

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QuestionGroup: #23 Mutation 2

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Mutations are the result of which of the following?

Change in the normal nucleotide sequence in the DNA directly resulting in different carbohydrates

Change in the normal nucleotide sequence in the DNA directly resulting in different proteins

Change in the order of transfer RNA to messenger RNA so that the transfer RNA take over the role of Messenger RNA

Primarily an alteration in the sequence of nucleotides in the abnormal proteins

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QuestionGroup: #24 Cell division

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There are two major kinds of cell division. Which of the following plays a major role in promoting genetic diversity?

Meiosis since it causes the cells to make more daughter cells than mitosis

Mitosis since it causes the cells to duplicate and eventually have mutations

Meiosis since it causes the DNA sequences to be separated into new patterns in the daughter cells.

Mitosis since it essential for the ovaries in humans to separate and duplicate

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QuestionGroup: #25 Cancer

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Genes that slow down or stop the cell cycle are called...

Apoptotic genes

Oncogenes

Restriction genes

Tumor suppressor genes

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QuestionGroup: #26 Cancer2

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The common theme in the development of all cancers is...

Mutation

Evolution

Infection

Syncopation

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QuestionGroup: #27 Genetics

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Homework

Punnett's square is which of the following?

Example of all possible combinations of alleles

Example of all possible combinations of chromosomes

Example of only certain combination of alleles since some will not be expressed.

Example of all possible combinations of DNA

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QuestionGroup: #28 Embryo development

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Which of the following is the end of the cleavage phase?

A fetus

Formation of a blastocyst

Implantation to the lining of the uterus

Fewer number of cells

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QuestionGroup: #29 Development of organ system

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For organs to be differentiated, which of the following is the first step?

Stem cells trigger the development of differentiated cells

Tissues assemble into organ systems such as blood

Tissue specific genes in stem cells are triggered

Differentiated cells form tissues

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QuestionGroup: #30 Development and society

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Homework

A pregnant mother ingests a chemical which her mother said would be great for the baby. When the baby was born, it had a large head and flippers for arms. What caused this phenotype?

The chemicals were teratogens which influenced oxidative phosphorylation causing the changes in the phenotype.

The chemicals influenced the expression of different stem cells.

There is no way to assume the chemicals caused the phenotype since we have no data on other mothers who took this medicine. It could have been purely by chance.

The chemicals were teratogens which caused the baby to show early signs of evolution.

BIOL 312 Lecture Notes - Lecture 11: Missense Mutation, Frameshift Mutation, Nonsense Mutation

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