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Mutations and Cancer

A-Level AQA Biology

This pack of flashcards encompasses a comprehensive overview of gene mutations, their types, and effects on protein structure. It includes details on mutagenic agents, carcinogens, the specifics of addition, deletion, substitution, inversion, duplication, and translocation mutations in DNA sequencing. It also addresses the role of mutations in cancer development and differentiates between benign and malignant tumors.

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"Define a gene mutation."	"A gene mutation is the alteration of a base in the sequence of bases for one gene. This is likely to occur during DNA replication, which happens during interphase in the cell cycle."
"How can mutations affect the structure of a protein?"	"Because mutations alter the gene, they can result in a different amino acid sequence in the encoded polypeptide. If the amino acid sequence changes, then when the protein is modified into the tertiary structure, it will form hydrogen and ionic bonds in different places and fold differently. This will result in a different 3D shape, and therefore a non-functioning protein."
"What are some examples of mutagenic agents?"	"Mutagenic agents include radiation such as α and β particles, x-rays, and gamma rays. Ultraviolet light is not ionizing, but it is still high enough to cause damage and disrupt the structure of DNA. Other mutagenic agents include chemicals that can alter the structure of DNA and interfere with transcription, such as chemicals in tobacco smoke, mustard gas, and peroxides."
"Describe the term 'Carcinogens'."	"Carcinogens is the term given to chemicals that can alter the structure of DNA and interfere with transcription. These include chemicals in tobacco smoke, mustard gas, and peroxides."
"List the different types of gene mutations."	"The different types of gene mutations include Addition, Deletion, Substitution, Inversion, Duplication, and Translocation."
"Explain what happens in an 'Addition' type of gene mutation."	"In an 'Addition' type of gene mutation, one extra base is added to the sequence."
"Define a frame shift mutation in DNA sequencing."	"A frame shift mutation in DNA sequencing is when one base is added or deleted from the sequence, altering all subsequent codons. This can potentially code for different amino acids and result in a very different sequence of amino acids, often leading to a non-functioning protein."
"What is the impact of a deletion mutation in DNA sequencing?"	"A deletion mutation in DNA sequencing is when a base is removed from the sequence, causing a frame shift to the left. This could result in a different polypeptide chain and a non-functioning protein."
"Describe a substitution mutation in DNA sequencing."	"A substitution mutation in DNA sequencing is when one base is changed for a different base, but the number of bases remains the same and there is no frame shift. This results in only one codon changing, and due to the genetic code being degenerate, it may still code for the same amino acid and therefore have no impact."
"Explain an inversion mutation in DNA sequencing."	"An inversion mutation in DNA sequencing is when a section of bases detaches from the DNA sequence, but when they re-join, they are inverted. This results in different amino acids being coded for in this region."
"What happens during a duplication mutation in DNA sequencing?"	"During a duplication mutation in DNA sequencing, one particular base is duplicated at least once in the sequence. This causes a frame shift to the right, and a different sequence of amino acids is coded for."
"Define translocation in the context of genetics."	"Translocation is a process where a section of bases on one chromosome detaches and attaches onto a different chromosome. This is a substantial alteration and can cause significant impacts on gene expression and therefore the resulting phenotype."
"How do mutations contribute to the development of cancer?"	"Cancer is a result of mutations in genes that regulate mitosis. If these genes mutate and non-functioning proteins are made, then mitosis is not regulated, and it results in the uncontrollable division of cells and the creation of a tumor."
"Describe the characteristics of benign tumors."	"Benign tumors can grow very large but at a slow rate. They are non-cancerous because they produce adhesion molecules sticking them together and to a particular tissue. They are often surrounded by a capsule, so they remain compact and therefore can be removed by surgery, and they rarely return. For these reasons, the impact is localized and often not life-threatening, depending on the tumor location."
"Explain the difference between benign and malignant tumors."	"Benign tumors are non-cancerous, grow slowly, and are often encapsulated, making them easier to remove surgically. They rarely return after removal. Malignant tumors, on the other hand, are cancerous, grow rapidly, and can spread to other parts of the body, making them more dangerous and difficult to treat."

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Define a gene mutation.

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A gene mutation is the alteration of a base in the sequence of bases for one gene. This is likely to occur during DNA replication, which happens during interphase in the cell cycle.

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If the amino acid sequence changes, then when the protein is modified into the tertiary structure, it will form hydrogen and ionic bonds in different places and fold differently. This will result in a different 3D shape, and therefore a non-functioning protein.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Mutations impact protein structure by changing the amino acid sequence, leading to altered folding patterns. This affects the formation of bonds in the tertiary structure, resulting in a different 3D shape. A non-functional protein may arise due to these structural changes.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332025,"front":"What are some examples of mutagenic agents?","back":"Mutagenic agents include radiation such as α and β particles, x-rays, and gamma rays. Ultraviolet light is not ionizing, but it is still high enough to cause damage and disrupt the structure of DNA. Other mutagenic agents include chemicals that can alter the structure of DNA and interfere with transcription, such as chemicals in tobacco smoke, mustard gas, and peroxides.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Mutagenic agents can induce genetic mutations. Radiation can directly damage DNA, while chemicals like those in tobacco smoke can cause mutations. Mustard gas and peroxides are also mutagenic. Ultraviolet light, although not ionizing, can still harm DNA.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332026,"front":"Describe the term 'Carcinogens'.","back":"Carcinogens is the term given to chemicals that can alter the structure of DNA and interfere with transcription. These include chemicals in tobacco smoke, mustard gas, and peroxides.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Carcinogens are substances known for their ability to cause cancer by damaging the genetic material in cells. They can lead to mutations in DNA, disrupting normal cell functions and potentially leading to the development of cancer. Carcinogens can be found in various sources such as tobacco smoke, industrial chemicals, and environmental pollutants.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332027,"front":"List the different types of gene mutations.","back":"The different types of gene mutations include Addition, Deletion, Substitution, Inversion, Duplication, and Translocation.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Gene mutations can arise spontaneously or be induced by external factors like radiation or chemicals. They can lead to changes in the DNA sequence, affecting protein production and potentially causing genetic disorders or cancer. Understanding the various types of mutations is crucial in studying genetic diseases and developing targeted therapies.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332028,"front":"Explain what happens in an 'Addition' type of gene mutation.","back":"In an 'Addition' type of gene mutation, one extra base is added to the sequence.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"In an 'Addition' type of gene mutation, the genetic sequence experiences the addition of an extra base. This alteration can disrupt the normal reading frame of the gene, leading to a shift in the codons and potentially changing the resulting protein. This type of mutation can have significant effects on the structure and function of the protein, potentially leading to genetic disorders or diseases.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332029,"front":"Define a frame shift mutation in DNA sequencing.","back":"A frame shift mutation in DNA sequencing is when one base is added or deleted from the sequence, altering all subsequent codons. This can potentially code for different amino acids and result in a very different sequence of amino acids, often leading to a non-functioning protein.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Frame shift mutations significantly impact protein synthesis by changing the reading frame of the genetic code. This alteration can lead to the production of entirely different proteins, which may disrupt cellular functions or lead to diseases. Understanding these mutations is crucial for genetic research and therapeutic developments.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332030,"front":"What is the impact of a deletion mutation in DNA sequencing?","back":"A deletion mutation in DNA sequencing is when a base is removed from the sequence, causing a frame shift to the left. This could result in a different polypeptide chain and a non-functioning protein.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":null,"deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332031,"front":"Describe a substitution mutation in DNA sequencing.","back":"A substitution mutation in DNA sequencing is when one base is changed for a different base, but the number of bases remains the same and there is no frame shift. This results in only one codon changing, and due to the genetic code being degenerate, it may still code for the same amino acid and therefore have no impact.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":null,"deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332039,"front":"Explain an inversion mutation in DNA sequencing.","back":"An inversion mutation in DNA sequencing is when a section of bases detaches from the DNA sequence, but when they re-join, they are inverted. This results in different amino acids being coded for in this region.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Inversion mutations can disrupt gene function by altering the reading frame, potentially leading to nonfunctional proteins or new functions. This can have significant evolutionary implications, as it may introduce variability that natural selection can act upon, influencing traits and adaptability in organisms.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332061,"front":"What happens during a duplication mutation in DNA sequencing?","back":"During a duplication mutation in DNA sequencing, one particular base is duplicated at least once in the sequence. This causes a frame shift to the right, and a different sequence of amino acids is coded for.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":null,"deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332089,"front":"Define translocation in the context of genetics.","back":"Translocation is a process where a section of bases on one chromosome detaches and attaches onto a different chromosome. This is a substantial alteration and can cause significant impacts on gene expression and therefore the resulting phenotype.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Translocation in genetics refers to the movement of a section of DNA from one chromosome to another. This rearrangement can disrupt the normal functioning of genes, leading to changes in gene expression and potentially affecting the phenotype. Translocations can occur spontaneously or be caused by external factors such as radiation or certain chemicals. They can have significant consequences for an organism's health and development.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332104,"front":"How do mutations contribute to the development of cancer?","back":"Cancer is a result of mutations in genes that regulate mitosis. If these genes mutate and non-functioning proteins are made, then mitosis is not regulated, and it results in the uncontrollable division of cells and the creation of a tumor.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Mutations can disrupt the normal function of genes that control cell division, leading to uncontrolled cell growth and tumor formation. This occurs when mutations affect the regulation of mitosis, causing cells to divide uncontrollably. As a result, mutations play a significant role in the development of cancer.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332110,"front":"Describe the characteristics of benign tumors.","back":"Benign tumors can grow very large but at a slow rate. They are non-cancerous because they produce adhesion molecules sticking them together and to a particular tissue. They are often surrounded by a capsule, so they remain compact and therefore can be removed by surgery, and they rarely return. For these reasons, the impact is localized and often not life-threatening, depending on the tumor location.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Benign tumors exhibit slow growth and can reach a significant size. They are non-cancerous due to the presence of adhesion molecules, which promote cohesion with surrounding tissue. Typically encapsulated, they can be surgically removed and have a low likelihood of recurrence. Their localized impact and non-life-threatening nature depend on their location.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}},{"id":1332111,"front":"Explain the difference between benign and malignant tumors.","back":"Benign tumors are non-cancerous, grow slowly, and are often encapsulated, making them easier to remove surgically. They rarely return after removal. Malignant tumors, on the other hand, are cancerous, grow rapidly, and can spread to other parts of the body, making them more dangerous and difficult to treat.","front_language":"English","back_language":"English","front_image":"","back_image":"","order":0,"explanation":"Benign tumors are typically slow-growing and enclosed within a fibrous capsule, allowing for easier surgical removal. They are non-cancerous and have a low chance of recurring after removal. Malignant tumors, however, are cancerous and tend to grow rapidly. They have the ability to invade nearby tissues and spread to other parts of the body, making them more dangerous and challenging to treat.","deleted_at":null,"flashcard_deck_id":"31UGE","original_id":null,"examMode":{"text":"","correct":"","incorrect":"","info":""}}]

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