D1.3 - Mutations and gene editing Flashcards
What is the primary source of genetic variation?
Mutations.
What is a silent mutation?
A base change that doesn’t alter the amino acid coded for.
What is a substitution mutation?
One base is replaced by another.
What is sickle cell anemia?
A condition caused by a single point mutation in the β-globin gene.
What is a nonsense mutation?
A base change that creates a premature stop codon.
What is a missense mutation?
A base change that results in a different amino acid.
What is the genetic basis of sickle cell anemia?
A single base substitution (A to T) in the β-globin gene.
What is CRISPR-Cas9?
A gene editing tool adapted from a natural defense mechanism in bacteria.
What is the role of guide RNA (gRNA) in CRISPR?
It directs the Cas9 enzyme to the target DNA sequence.
What are the molecular effects of mutations?
They can alter protein structure and function.
What can cause mutations?
Spontaneous errors, environmental factors, and biological factors.
What is GenBank?
A comprehensive database containing publicly available nucleotide sequences for over 400,000 organisms.
What does the Cas9 enzyme do?
Acts as molecular scissors to cut the DNA at the specified location.
What are ethical concerns in gene editing?
Off-target effects, germline editing, and enhancement vs. treatment.
What are mutations?
Changes in DNA sequences that can occur spontaneously or be induced by various factors.
