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Questions and Answers
What type of radiation is known to induce mutations?
What type of radiation is known to induce mutations?
- Microwave radiation
- Gamma and X-rays (correct)
- Ultraviolet radiation
- Radio waves
Which of the following is NOT a type of mutagen listed?
Which of the following is NOT a type of mutagen listed?
- Nuclear force (correct)
- Biological agent
- Physical agent
- Chemical agent
Which category does ionizing radiation belong to?
Which category does ionizing radiation belong to?
- Physical agents (correct)
- Environmental toxins
- Only biological agents
- Only chemical agents
What is a common effect of exposure to mutagens?
What is a common effect of exposure to mutagens?
Which of the following options best describes a mutagen?
Which of the following options best describes a mutagen?
What type of inheritance pattern is associated with Alpha thalassemia?
What type of inheritance pattern is associated with Alpha thalassemia?
Which of the following conditions is classified under β-Thalassemia?
Which of the following conditions is classified under β-Thalassemia?
Which condition is categorized as autosomal recessive among the following?
Which condition is categorized as autosomal recessive among the following?
What is the correct categorization of Alpha Thalassemia?
What is the correct categorization of Alpha Thalassemia?
Which of the following is true regarding Sickle Cell Disease?
Which of the following is true regarding Sickle Cell Disease?
What is the maximum number of bases typically affected by a small scale mutation?
What is the maximum number of bases typically affected by a small scale mutation?
Which type of mutation involves a mutation affecting larger segments of DNA?
Which type of mutation involves a mutation affecting larger segments of DNA?
Which of the following best characterizes small scale mutations?
Which of the following best characterizes small scale mutations?
What distinguishes small scale mutations from large scale mutations?
What distinguishes small scale mutations from large scale mutations?
What is the definition of large scale mutations?
What is the definition of large scale mutations?
What is the distinction between germinal and somatic mutations?
What is the distinction between germinal and somatic mutations?
How is the size of mutations understood at different levels?
How is the size of mutations understood at different levels?
In which type of cell do germinal mutations occur?
In which type of cell do germinal mutations occur?
Which statement is true regarding somatic mutations?
Which statement is true regarding somatic mutations?
Which of the following statements about mutations is correct?
Which of the following statements about mutations is correct?
What is a missense point mutation?
What is a missense point mutation?
What can be a result of having more than 200 different gene mutations?
What can be a result of having more than 200 different gene mutations?
Which of the following best describes a large exon deletion mutation?
Which of the following best describes a large exon deletion mutation?
What is one consequence of a genetic mutation?
What is one consequence of a genetic mutation?
Which virus is associated with hepatocellular carcinoma (HCC)?
Which virus is associated with hepatocellular carcinoma (HCC)?
What type of cancer is caused by human papilloma virus (HPV)?
What type of cancer is caused by human papilloma virus (HPV)?
Which of the following is NOT caused by a virus?
Which of the following is NOT caused by a virus?
Which of the following pairs correctly identifies a virus and the type of cancer it is associated with?
Which of the following pairs correctly identifies a virus and the type of cancer it is associated with?
What consequence can result from a chronic infection with the Hepatitis C virus?
What consequence can result from a chronic infection with the Hepatitis C virus?
Which type of defect is associated with a mutation that can be transmitted to future generations?
Which type of defect is associated with a mutation that can be transmitted to future generations?
Which of the following types of mutations cannot be transmitted to offspring?
Which of the following types of mutations cannot be transmitted to offspring?
What is an example of an effect caused by a defect in a defect in mRNA?
What is an example of an effect caused by a defect in a defect in mRNA?
Which consequence is most likely related to a defect in the polypeptide chain?
Which consequence is most likely related to a defect in the polypeptide chain?
Which statement correctly differentiates the types of defects related to genetic mutations?
Which statement correctly differentiates the types of defects related to genetic mutations?
What is the primary effect of certain DNA damage on nucleotide sequences?
What is the primary effect of certain DNA damage on nucleotide sequences?
Which statement best represents the consequence of modified nucleotides on genetic expression?
Which statement best represents the consequence of modified nucleotides on genetic expression?
What aspect of RNA polymerase activity is primarily affected by certain types of DNA damage?
What aspect of RNA polymerase activity is primarily affected by certain types of DNA damage?
How would RNA polymerase specifically react to a segment of DNA with damaged nucleotides?
How would RNA polymerase specifically react to a segment of DNA with damaged nucleotides?
What type of nucleotide changes are most likely to disrupt RNA polymerase binding?
What type of nucleotide changes are most likely to disrupt RNA polymerase binding?
What effect do additions or deletions of nucleotides have on the genetic code?
What effect do additions or deletions of nucleotides have on the genetic code?
Which of the following accurately describes the outcome of a mutation that alters the reading frame?
Which of the following accurately describes the outcome of a mutation that alters the reading frame?
What is a common consequence of both additions and deletions in nucleotide sequences?
What is a common consequence of both additions and deletions in nucleotide sequences?
When a reading frame is altered by a mutation, what potential impact can this have on an organism?
When a reading frame is altered by a mutation, what potential impact can this have on an organism?
How does a mutation that alters the reading frame differ from other types of mutations?
How does a mutation that alters the reading frame differ from other types of mutations?
What is a primary health risk associated with aflatoxin exposure?
What is a primary health risk associated with aflatoxin exposure?
Which of the following substances is classified as a heterocyclic amine?
Which of the following substances is classified as a heterocyclic amine?
Which group of substances is primarily responsible for inducing mutations through their chemical properties?
Which group of substances is primarily responsible for inducing mutations through their chemical properties?
What is a common source of heterocyclic amines that could affect human health?
What is a common source of heterocyclic amines that could affect human health?
Which type of cancer has been linked to the inhalation of certain chemicals present in cigarette smoke?
Which type of cancer has been linked to the inhalation of certain chemicals present in cigarette smoke?
Which virus is specifically linked to the development of cervical cancer?
Which virus is specifically linked to the development of cervical cancer?
Which of the following cancers is NOT associated with a virus?
Which of the following cancers is NOT associated with a virus?
What type of cancer is correlated with the Hepatitis C virus (HCV)?
What type of cancer is correlated with the Hepatitis C virus (HCV)?
Which of these viruses is primarily associated with causing cancer in the liver?
Which of these viruses is primarily associated with causing cancer in the liver?
What effect does a mutation in a regulatory element typically have on gene expression?
What effect does a mutation in a regulatory element typically have on gene expression?
Which of the following statements accurately describes the impact of mutations in regulatory elements?
Which of the following statements accurately describes the impact of mutations in regulatory elements?
How can the expression level of a gene be affected by regulatory mutations?
How can the expression level of a gene be affected by regulatory mutations?
What range of effects can regulatory mutations have on gene expression levels?
What range of effects can regulatory mutations have on gene expression levels?
In general, what is the consequence of a mutation occurring in a regulatory element of DNA?
In general, what is the consequence of a mutation occurring in a regulatory element of DNA?
Which virus is correctly associated with the development of a specific type of cancer?
Which virus is correctly associated with the development of a specific type of cancer?
What cancer is primarily linked to persistent infection with human papilloma virus?
What cancer is primarily linked to persistent infection with human papilloma virus?
Which virus is NOT depicted as causing any type of cancer in the provided information?
Which virus is NOT depicted as causing any type of cancer in the provided information?
What is the main type of cancer associated with chronic infection from Hepatitis C virus?
What is the main type of cancer associated with chronic infection from Hepatitis C virus?
Which of the following statements about viruses causing cancer is accurate?
Which of the following statements about viruses causing cancer is accurate?
Flashcards
Mutagens
Mutagens
Agents that can cause changes in DNA sequences
Ionizing radiation
Ionizing radiation
A type of radiation that can cause mutations
Gamma rays
Gamma rays
A type of ionizing radiation that can cause mutations
X-rays
X-rays
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Chemical mutagens
Chemical mutagens
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Germinal Mutations
Germinal Mutations
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Somatic Mutations
Somatic Mutations
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Gross Mutations
Gross Mutations
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Small Mutations
Small Mutations
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DNA mutation
DNA mutation
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Small-scale Mutation
Small-scale Mutation
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Large-scale Mutation
Large-scale Mutation
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Point Mutation
Point Mutation
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Insertion Mutation
Insertion Mutation
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How does Hepatitis C virus cause cancer?
How does Hepatitis C virus cause cancer?
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How does Human papilloma virus cause cancer?
How does Human papilloma virus cause cancer?
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How do viruses cause cancer?
How do viruses cause cancer?
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How can viruses indirectly cause cancer?
How can viruses indirectly cause cancer?
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What other virus is known to cause cancer?
What other virus is known to cause cancer?
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Missense Point Mutation
Missense Point Mutation
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Large Deletion Mutation
Large Deletion Mutation
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Alpha thalassemia
Alpha thalassemia
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Autosomal recessive (AR) inheritance
Autosomal recessive (AR) inheritance
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Beta-thalassemia
Beta-thalassemia
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Sickle cell disease (SCD)
Sickle cell disease (SCD)
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Alpha thalassemia
Alpha thalassemia
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What happens to DNA when some damage occurs?
What happens to DNA when some damage occurs?
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What is RNA polymerase?
What is RNA polymerase?
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How can DNA mutations disrupt cellular function?
How can DNA mutations disrupt cellular function?
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How can Hepatitis C virus cause cancer?
How can Hepatitis C virus cause cancer?
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How can Human papilloma virus cause cancer?
How can Human papilloma virus cause cancer?
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What are aflatoxins?
What are aflatoxins?
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What are heterocyclic amines?
What are heterocyclic amines?
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What are some examples of mutagenic drugs?
What are some examples of mutagenic drugs?
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How does cigarette smoke contribute to cancer?
How does cigarette smoke contribute to cancer?
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Ionizing radiation and its effect on cancer.
Ionizing radiation and its effect on cancer.
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Frameshift Mutation
Frameshift Mutation
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Frameshift Mutation's Effect on Amino Acid Sequence
Frameshift Mutation's Effect on Amino Acid Sequence
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Wild Type
Wild Type
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Mutant Type
Mutant Type
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Mutations in Regulatory Elements
Mutations in Regulatory Elements
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How do mutations in regulatory elements affect gene expression?
How do mutations in regulatory elements affect gene expression?
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What is the significance of mutations in regulatory elements?
What is the significance of mutations in regulatory elements?
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What are the implications of mutations in regulatory elements?
What are the implications of mutations in regulatory elements?
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Why is studying mutations in regulatory elements important?
Why is studying mutations in regulatory elements important?
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Study Notes
DNA Mutations
- DNA mutations are permanent changes to the base sequence of nucleotides.
- Mutations can be classified by size: gross changes at the chromosome level, or smaller changes at the DNA level.
- Mutations can be classified by cell type: germline or somatic.
- Germline mutations occur in germ cells (sperm or egg) and can be transmitted to future generations.
- Somatic mutations occur in somatic cells and cannot be passed on to offspring.
Types of Mutations
- Germline mutations affect the entire organism, as all cells inherit the mutation.
- Somatic mutations only affect the specific cells where the mutation occurs and its immediate area of the organism.
Causes of Mutations
- Uncorrected replication errors: Errors that arise during DNA replication can lead to mutations.
- Transcription errors: RNA polymerase may make errors in copying DNA, potentially leading to mutations.
- Spontaneous mutations: These occur naturally, including depurination (loss of a purine base) and oxidative deamination (conversion of a cytosine to uracil).
- Induced mutations: These are caused by external factors (mutagens). Examples include:
- Physical mutagens: ionizing radiation (e.g., gamma rays, X-rays) and UV radiation. Electromagnetic radiation from mobile phones, satellites, and computers
- Chemical mutagens: free radicals, aflatoxin, heterocyclic amines (found in overcooked food), certain drugs (chemotherapy), cigarette smoke, and others.
- Biological mutagens: viruses (e.g., Hepatitis C virus, Human papilloma virus, Human Herpes virus), bacteria (e.g., H.pylori)), and other biological agents.
Effects of Mutations
- Mutations can cause defects in mRNA, polypeptide chains, and protein function.
- Mutations can lead to noticeable phenotypic changes (e.g., sickle cell disease)
- Some mutations can result in a silent phenotypic effect with no protein production changes.
- Other mutations lead to:
- Missense mutations: substitutions that change the amino acid, with results that can be acceptable, partially acceptable, or non-acceptable.
- Nonsense mutations: change a normal codon to a termination codon, resulting in a non-functioning protein.
- Sense mutations: change a termination codon to one that codes for an amino acid.
Large-Scale Mutations
- Deletions: Loss of a segment of DNA.
- Duplications: Repetition of a segment of DNA.
- Inversions: A segment of DNA is reversed.
- Translocations: Movement of a DNA segment to a different location in the genome.
Molecular Hematology
- Molecular hematology is the study of the molecular basis of hematological disorders, both benign (e.g., anemia) and malignant (e.g., leukemia).
- Hemoglobinopathies are a group of diseases related to abnormal hemoglobin synthesis.
- Examples of hemoglobinopathies (diseases caused by point mutations): sickle cell disease, beta-thalassemia, and alpha-thalassemia.
Sickle Cell Disease (SCD)
- Characterized by chronic hemolytic anemia and abnormal hemoglobin S.
- Caused by a missense point mutation in the beta-globin gene, changing the 6th amino acid from glutamic acid to valine.
- This results in a change in the shape of red blood cells, making them sickle-shaped.
Beta-Thalassemia
- A group of autosomal recessive diseases related to reduced synthesis or absence of beta-globin chains.
- Caused by various gene mutations on chromosome 11, resulting in abnormal hemoglobin and anemia.
Alpha-Thalassemia
- Caused by large (exon or gene) deletion mutations in the alpha-globin gene on chromosome 16, resulting in decreased or absent alpha-globin production.
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