Mutation

What is the term for a change in the DNA sequence of an organism when compared to a reference sequence?

According to the text, what is the key distinction between a somatic mutation and a germline mutation?

A base substitution mutation that changes an amino acid-specifying codon to a stop codon is known as what type of mutation?

What type of mutation results from an insertion or deletion of a number of nucleotides that is not divisible by three?

A mutation that causes a gene to produce more protein or be active under inappropriate conditions is described as what type of mutation?

What is the term for genes where a single functional copy is not enough to produce a normal phenotype, often leading to a dominant inheritance pattern for loss-of-function mutations?

The text explains that nonsense suppressors, which allow translation to proceed through a stop codon, are themselves mutations in what type of gene?

What is the primary mechanism described in the text that causes single base transition mutations during DNA replication?

What type of mutation is commonly caused by strand slippage during replication, especially in regions with repeated sequences?

Huntington's disease is caused by the expansion of what specific three-nucleotide repeat within the HTT gene?

Exposure to UV light is described as causing what specific type of DNA damage?

What is the threshold percentage of a population that must have a particular DNA variation for it to be termed a polymorphism rather than a mutation, assuming it is not associated with disease?

A base substitution that changes a purine to a different purine (e.g., A to G) or a pyrimidine to a different pyrimidine (e.g., C to T) is called what type of mutation?

In the case of cystic fibrosis, the text mentions that some disease-associated CFTR mutations are not null. What does this imply?

What is the consequence of a missense mutation that is described as 'nonconservative'?

What happens to the DNA sequence in a silent mutation?

How does the text describe the typical dominance pattern of gain-of-function versus loss-of-function mutations?

What is the common outcome of the deamination of cytosine if the damage is not repaired?

According to the text, in healthy individuals, alleles for the HTT gene typically have fewer than how many CAG repeats?

What is the term for a mutation in a second gene that undoes the effect of a mutation in a first gene?

Loss of function mutations in the CCR5 gene can be beneficial to humans because they confer resistance to what?

The text explains that the rare enol tautomer of thymine incorrectly base pairs with which nucleotide?

What term is used to describe large-scale chromosomal rearrangements such as deletions, duplications, and translocations?

Approximately how many cycles of cell division does the text hypothesize it takes to get from a single-celled zygote to a mature human body?

What is the term for mutations that arise new in an offspring and were not seen in the parents' original genomes?

Oxidative damage can result in the formation of 8-oxoguanine. While this damaged base can still pair correctly with cytosine, its rotation allows it to mispair with which other base?

What is the general term for an external agent, such as a chemical or radiation, that causes DNA damage?

What is the key difference between an intragenic suppressor mutation and an intergenic suppressor mutation?

A transversion is a type of base substitution mutation that involves which of the following changes?

According to the text, what is the estimated rate of mutation with every round of cell division?

Which type of mutation would be most likely to have a major detrimental effect on protein function if it occurs early in the coding sequence?

In the gas stove analogy for gene function, a burner that cannot be turned off and makes an extra-large flame represents what type of mutation?

What type of DNA lesion results from the hydrolysis of the glycosidic bond connecting a base to its sugar?

Ehlers-Danlos Syndrome, caused by a loss-of-function mutation in the COL5A1 collagen gene, is an example of what genetic principle?

What is the key reason that mutations in introns can still affect a phenotype?

What is the only type of base substitution mutation that does not change the resulting protein sequence?

In Huntington's disease, the pathogenic allele is considered unstable and expands further in which type of cell divisions?

How many cell divisions are estimated to occur cumulatively over a human lifetime, leading to a vast number of potential mutational differences between cells?

Why are mutations in non-coding DNA sequences often neutral?

What type of chromosomal rearrangement involves a segment of a chromosome being flipped in orientation?

If a silent mutation occurs, what is the effect on the phenotype?

If an intragenic suppressor mutation occurs, what is its effect?

Which purine base is about 20 times more susceptible to hydrolysis, leading to abasic sites, compared to pyrimidines?

The text states that DNA damage must escape which cellular process to become a fixed mutation?

What is the common term for repeated DNA sequences like CGCGCGC or CAGCAGCAG where strand slippage is more likely to occur?

In a diploid organism, a loss-of-function mutation is typically recessive. Why?

How many apurinic sites are estimated to occur per human cell every day, according to the text?

What is the term for a mutation that changes an amino acid to another with similar chemical properties, such as replacing one small nonpolar amino acid with another?

If a germline mutation occurs in a zygote, what is the expected distribution of the mutation in the resulting full-grown organism?

A mutation in a promoter that prevents transcription machinery from binding would be classified as what type of functional mutation?