Cell Fate

Question 1

Front: What is a mutation?


Answer 1

Back: A mutation is a change in the DNA sequence that can affect the structure or function of the resulting protein, potentially altering the phenotype.

Question 2

Front: What is the difference between genome, gene, somatic, and germline mutations?


Answer 2

Back:
* Genome mutation: Affects the number of chromosomes (e.g., trisomy 21 in Down syndrome).
* Gene mutation: Affects the DNA sequence of a single gene (e.g., point mutations in cystic fibrosis).
* Somatic mutation: Occurs in non-reproductive cells and is not inherited.
* Germline mutation: Occurs in gametes and is passed on to offspring.

Question 3

Front: Can you name an example of a mutation with a positive effect?


Answer 3

Back: The mutation causing sickle cell trait provides resistance to malaria in heterozygous carriers

Question 4

Front: Give examples of disorders caused by chromosome and gene mutations.


Answer 4

Back:
* Chromosome mutations: Down syndrome (trisomy 21), Turner syndrome (monosomy X).
* Gene mutations: Cystic fibrosis (CFTR gene), Huntington’s disease (HTT gene).

Question 5

Front: What are the five types of chromosome mutations?


Answer 5

Back:
1. Deletion: A segment of a chromosome is lost.
2. Duplication: A segment is repeated.
3. Inversion: A segment is reversed within the chromosome.
4. Translocation: A segment is moved to another chromosome.
5. Aneuploidy: Abnormal number of chromosomes (e.g., trisomy or monosomy).

Question 6

Front: What are the different types of gene mutations?


Answer 6

Back:
* Point mutation: Change in a single nucleotide (e.g., substitution).
* Insertion: Addition of one or more nucleotides.
* Deletion: Removal of one or more nucleotides.
* Frameshift mutation: Insertions or deletions that alter the reading frame.
* Nonsense mutation: Creates a premature stop codon.
* Missense mutation: Changes one amino acid in the protein.
* Silent mutation: No change in the protein despite a nucleotide change.

Question 7

Front: What are common mutagens?


Answer 7

Back:
* Physical mutagens: UV radiation, X-rays.
* Chemical mutagens: Tobacco smoke, aflatoxins.
* Biological mutagens: Certain viruses (e.g., HPV).

Question 8

Front: Why can’t genetic diseases be cured by pharmaceutical interventions?


Answer 8

Back: Genetic diseases are caused by permanent changes in DNA, which pharmaceuticals cannot repair. They may alleviate symptoms but cannot correct the underlying mutation