Transcription

What is the term used to describe a DNA sequence variation that is found in more than 1 percent of the population and is not associated with a disease?

Which type of mutation, occurring in specific cells, can be passed on to an organism's offspring?

A mutation in the DNA sequence of a gene changes a codon, but the resulting protein sequence remains unchanged. What is this type of mutation called?

What is the primary effect of a nonsense mutation when it occurs within the protein-coding sequence of a gene?

An insertion or deletion of a number of nucleotides that is not a multiple of three within a gene's coding region results in what type of mutation?

A mutation that causes a gene to be expressed in a new tissue or to be active under conditions when it is normally off is classified as what type of mutation?

In the case of Ehlers-Danlos Syndrome caused by a mutation in the COL5A1 gene, a loss-of-function allele results in a dominant phenotype. What is the underlying genetic principle for this?

What base-pairing error occurs during replication if a guanine base in the template strand undergoes a tautomeric shift to its rare enol form?

What specific type of DNA damage is caused by exposure to environmental UV light?

For the HTT gene associated with Huntington's Disease, what is the approximate number of CAG repeats found in alleles of healthy individuals?

What is the estimated frequency of apurinic sites, a common DNA lesion, occurring per cell each day in humans?

A base substitution mutation that replaces a purine with another purine, or a pyrimidine with another pyrimidine, is known as what type of mutation?

A base substitution that replaces a purine with a pyrimidine is classified as what type of mutation?

In regions of the genome with short, repeated sequences, what replication error is a common cause of insertion and deletion mutations?

What is the molecular identity of a nonsense suppressor?

A missense mutation that substitutes an amino acid with another that has very different chemical properties, such as changing a polar for a nonpolar one, is called what?

According to the text, approximately how many mutations arise with every round of cell division?

The spontaneous deamination of cytosine results in the formation of which other base?

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

An insertion of two bases into a coding sequence creates a frameshift. According to the text, what kind of second mutation within the same gene could act as an intragenic suppressor to restore the reading frame?

Which of the following is an example of a structural variant?

What is the term for a mutation that lessens the activity of a gene, potentially leading to a complete lack of functional protein?

A complete loss-of-function mutation, where no functional protein is produced, is also known by what specific term?

What is the general relationship between loss-of-function mutations and their phenotypic expression in diploid organisms?

What percentage of the human genome consists of protein-coding sequence?

The loss-of-function mutations in the CCR5 gene that confer resistance to HIV infection are an example of what kind of mutation?

Damage to DNA from reactive oxygen species (ROS), a byproduct of normal metabolism, can lead to the formation of 8-oxoguanine. What is the mutagenic consequence of this base modification?

What is the term for a mutation that occurs in nonreproductive cells of an organism's body?

If a thymine base in the DNA template strand undergoes a rare tautomeric shift to its enol form, with which base will it most likely pair during replication?

In the context of the lac operon, what would be the effect of a null mutation in the gene for the lac repressor (I-)?

What happens to the DNA sequence during an inversion?

If strand slippage occurs during replication and the newly synthesized daughter strand loops out, what is the resulting mutation in the daughter DNA molecule?

Why is the term 'mutant' generally avoided when describing people in the context of human genetics?

What type of large-scale chromosomal rearrangement results in the gain or loss of an entire chromosome?

What is the key reason that a frameshift mutation early in a gene is likely to have a greater impact on protein function than one near the end of the gene?

What type of mutation results from damage to a single base that is not corrected before a second round of replication, making the change permanent in some progeny?

What is the general inheritance pattern for gain-of-function mutations?

Mutations in non-coding regions like promoters or splice sites can affect the phenotype. What is the likely outcome of a mutation that alters a consensus sequence in an intron required for splicing?

What type of mutation is a change from a Thymine to a Guanine?

The hydrolysis of the glycosidic bond in a nucleotide results in what type of DNA lesion?

What is the typical result of a missense mutation on a protein's structure?

If a mutation occurs in an embryo, resulting in an organism with a patchwork of mutant and non-mutant cells, this individual has what kind of mutation?

What is the term for mutations that are newly arisen in an offspring and were not seen in the parents' genomes?

What is the consequence of a mutation that deletes the promoter of a gene?

Why do short sequence repeats, or microsatellites, show more frequent germ-line changes than other areas of the genome?

Ionizing radiation, such as X-rays, is an exogenous cause of DNA damage. What specific type of lesion does it typically cause?

What makes a silent mutation 'silent'?

In Huntington's Disease, the expansion of the CAG repeat leads to a protein with a long tract of which amino acid?

Which of the following scenarios describes an intergenic suppressor mutation?

If not repaired before replication, the lesion caused by the deamination of cytosine to uracil would most likely lead to what type of point mutation?