Podcast
Questions and Answers
What is the main function of the CFTR protein?
What is the main function of the CFTR protein?
- Regulating blood sugar levels
- Maintaining the balance of salt and water on cell surfaces (correct)
- Storing genetic information
- Producing antibodies to fight infections
Why did the doctor ask for CTT deletion?
Why did the doctor ask for CTT deletion?
- Because it's the most common mutation in the CFTR gene
- Because it's a frameshift mutation
- Because it causes a significant loss of function in the CFTR protein (correct)
- Because it's a spontaneous mutation
What type of mutation is the CTT deletion?
What type of mutation is the CTT deletion?
- Non-frameshift mutation
- Chromosomal mutation
- Frameshift mutation (correct)
- Point mutation
Why is PCR technique suitable for detecting CTT deletion?
Why is PCR technique suitable for detecting CTT deletion?
What type of mutation is shown in Azad's β globin gene?
What type of mutation is shown in Azad's β globin gene?
What is one of the causes of mutations?
What is one of the causes of mutations?
What is a mutation?
What is a mutation?
What can result from mutations that occur during DNA replication?
What can result from mutations that occur during DNA replication?
What is a source of genetic variation?
What is a source of genetic variation?
What is the result of a mutation in a gene?
What is the result of a mutation in a gene?
What can mutations cause?
What can mutations cause?
What is a mutant phenotype?
What is a mutant phenotype?
What type of mutation occurs when there is a change in a single nucleotide base?
What type of mutation occurs when there is a change in a single nucleotide base?
What is a mutant allele?
What is a mutant allele?
What is the effect of a silent mutation?
What is the effect of a silent mutation?
What type of mutation occurs when a nucleotide is inserted or deleted in the DNA sequence?
What type of mutation occurs when a nucleotide is inserted or deleted in the DNA sequence?
What is the relationship between a mutation and a mutant?
What is the relationship between a mutation and a mutant?
What is the result of a nonsense mutation?
What is the result of a nonsense mutation?
What type of mutation does not change the reading frame?
What type of mutation does not change the reading frame?
What happens when there is an insertion or deletion of nucleotides other than 3 or multiples of 3?
What happens when there is an insertion or deletion of nucleotides other than 3 or multiples of 3?
What can point mutations in non-coding regions of a gene affect?
What can point mutations in non-coding regions of a gene affect?
What is the name of the type of mutation that replaces one amino acid with another?
What is the name of the type of mutation that replaces one amino acid with another?
What type of mutations are inherited and transmitted to offspring?
What type of mutations are inherited and transmitted to offspring?
What is the consequence of failure in DNA repair?
What is the consequence of failure in DNA repair?
What is the frequency of mispairing during eukaryotic replication?
What is the frequency of mispairing during eukaryotic replication?
What is the primary function of DNA repair mechanisms?
What is the primary function of DNA repair mechanisms?
When do proofreading and DNA repair occur?
When do proofreading and DNA repair occur?
What is the enzyme responsible for proofreading during DNA replication?
What is the enzyme responsible for proofreading during DNA replication?
What is the result of combined effects of vertical and horizontal transmission of induced mutations?
What is the result of combined effects of vertical and horizontal transmission of induced mutations?
What is the frequency of mutations in normal metabolic activities?
What is the frequency of mutations in normal metabolic activities?
What is removed by the excision endonuclease enzyme in nucleotide excision repair?
What is removed by the excision endonuclease enzyme in nucleotide excision repair?
What is the result of a defect in the nucleotide excision repair mechanism?
What is the result of a defect in the nucleotide excision repair mechanism?
What is the purpose of the DNA mismatch repair system?
What is the purpose of the DNA mismatch repair system?
What is the name of the autosomal recessive disorder caused by a defect in nucleotide excision repair?
What is the name of the autosomal recessive disorder caused by a defect in nucleotide excision repair?
What is the type of bond cleaved by the glycosylase enzyme in base excision repair?
What is the type of bond cleaved by the glycosylase enzyme in base excision repair?
What is the name of the syndrome caused by a mutation in the MLH1 gene?
What is the name of the syndrome caused by a mutation in the MLH1 gene?
What type of damage is corrected by nucleotide excision repair?
What type of damage is corrected by nucleotide excision repair?
How do individuals with Xeroderma Pigmentosum reduce their risk of skin cancer?
How do individuals with Xeroderma Pigmentosum reduce their risk of skin cancer?
Flashcards
Mutation
Mutation
A permanent, inheritable change in an organism's DNA base sequence.
Small mutations
Small mutations
Changes in the nucleotide sequence of a single gene.
Substitution (point mutation)
Substitution (point mutation)
A single base change in the DNA sequence.
Silent mutation
Silent mutation
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Missense mutation
Missense mutation
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Nonsense mutation
Nonsense mutation
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Insertions, deletions, and frameshift mutations
Insertions, deletions, and frameshift mutations
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Non-frameshift mutation
Non-frameshift mutation
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Frameshift mutation
Frameshift mutation
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Spontaneous mutations
Spontaneous mutations
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Horizontal transmission
Horizontal transmission
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Gametes (germline mutations)
Gametes (germline mutations)
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Environmental factors
Environmental factors
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DNA repair mechanisms
DNA repair mechanisms
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Excision repair
Excision repair
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Base excision repair
Base excision repair
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Nucleotide excision repair
Nucleotide excision repair
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Mismatch repair
Mismatch repair
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DNA polymerase
DNA polymerase
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Glycosylase
Glycosylase
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Excision endonuclease
Excision endonuclease
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MLH1 and other proteins
MLH1 and other proteins
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DNA damage
DNA damage
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Failure of DNA repair
Failure of DNA repair
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Cancer
Cancer
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Xeroderma pigmentosum (XP)
Xeroderma pigmentosum (XP)
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Hereditary nonpolyposis colorectal cancer (HNPCC)
Hereditary nonpolyposis colorectal cancer (HNPCC)
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Evolution
Evolution
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Genetic variation
Genetic variation
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Study Notes
Mutations and Genetic Variation
- A mutation is a permanent, heritable change in an organism's DNA base sequence
- Mutations can result from damage to DNA molecules or unrepaired errors during replication
- They can cause genetic diseases, cell death, or changes in enzyme activity, nutritional requirements, antibiotic susceptibility, and other cellular properties
- Mutations are a source of genetic variation and can lead to evolution
- Not all mutations are bad; some can be beneficial
Types of Mutations
- Small mutations: change in nucleotide sequence of a single gene
- Substitutions (point mutations): a single base change
- Silent: does not alter the amino acid specified
- Missense: replaces one amino acid with another
- Nonsense: changes the amino acid specified to a stop codon
- Insertions, deletions, and frameshift mutations: addition or removal of one or more bases
- Non-frameshift: insertion or deletion of 3 nucleotides (or multiples of 3)
- Frameshift: insertion or deletion of nucleotides other than 3 or multiples of 3
- Substitutions (point mutations): a single base change
- Large-scale mutations: abnormal number of chromosomes or chromosomal structure (to be covered in next lecture)
Causes of Mutations
- Spontaneous mutations
- Horizontal transmission
- Gametes (germline mutations): inherited and transmitted to offspring
- Environmental factors: can cause DNA damage and mutations
DNA Repair Mechanisms
- Cells have mechanisms to check and repair genetic code during and after DNA replication
- Failure of DNA repair can have serious consequences, leading to disease
- Types of repair mechanisms:
- Excision repair
- Base excision repair
- Nucleotide excision repair
- Mismatch repair
- Excision repair
- Enzymes involved in repair mechanisms:
- DNA polymerase (proofreading)
- Glycosylase (base excision repair)
- Excision endonuclease (nucleotide excision repair)
- MLH1 and other proteins (mismatch repair)
DNA Damage, Repair, and Cancer
- DNA damage can occur due to normal metabolic activities or environmental factors
- Failure of DNA repair can lead to mutations and cancer
- Examples of diseases caused by defects in DNA repair mechanisms:
- Xeroderma pigmentosum (XP): defect in nucleotide excision repair
- Hereditary nonpolyposis colorectal cancer (HNPCC): defect in mismatch repair
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Description
Understand the concept of mutations, their causes, effects, and role in genetic variation and evolution. Learn how mutations can lead to genetic diseases or beneficial changes.
