MMSC491 Exam 2 Studying Questions Latest Update 2024-2025 260 Questions and 100% Verified Correct Answers Guaranteed A+ At First Attempt
A class of mutation that is quite frequently associated with a gain of function
- A post-zygotic (somatic) mutation
- A missense mutation
- A dynamic mutation
D) A premutation - CORRECT ANSWER: B) A missense mutation
A DNA variant in the ALX gene is observed at a frequency of 0.012%. How would this variant be described?
- Polymorphism
- Rare variant
- Mutation
D) Transgene - CORRECT ANSWER: A) Polymorphism
A mutation that does not cause a disease but that is unstable at mitosis and meiosis and can change into a pathogenic mutation
- A post-zygotic (somatic) mutation
- A missense mutation
- A dynamic mutation
D) A premutation - CORRECT ANSWER: D) A premutation
A nonsense mutation would be expected to result in...
- Production of a polypeptide shorter than normally expected
- Production of a gene product with an amino acid substitution
- No change in the encoded polypeptide
- Alter the regulation of gene expression of the encoded polypeptide - CORRECT
ANSWER: A) Production of a polypeptide shorter than normally expected
A pathogenic mutation that is unstable at mitosis and meiosis and can result in progressively severe phenotypes
- A post-zygotic (somatic) mutation
- A missense mutation
- A dynamic mutation
- A premutation - CORRECT ANSWER: C) A dynamic mutation 1 / 3
A person's ability to absorb or metabolize a drug that is intended to treat a genetic disorder is entirely due to genetic factors
- True
B) False - CORRECT ANSWER: B) False, there are other factors
A person's ability to absorb or metabolize a drug that is intended to treat a genetic disorder is not modified by having a bacterial infection
- True
B) False - CORRECT ANSWER: B) False, it will be modified
A silent mutation...
- is a mutation which leads to silencing of the gene expression of the encoded
- results in a mutated code that specifies the same amino acid as the original codon
- results in a mutated code is different than the same amino acid as the original codon
- is the result of a conservative mutation that does not lead to a change in the amino
polypeptide
acid in the encoded polypeptide, but the change is such that it does not lead to a
functional change in the encoded protein - CORRECT ANSWER: B) results in a
mutated code that specifies the same amino acid as the original codon
A type of mutation that results in genetic mosaicism
- A post-zygotic (somatic) mutation
- A missense mutation
- A dynamic mutation
D) A premutation - CORRECT ANSWER: A) A post-zygotic (somatic) mutation
Allele - CORRECT ANSWER: Individual version of a gene or DNA sequence at a locus on a single chromosome
Allele Frequency - CORRECT ANSWER: The frequency of an allele in a population;
that is, the proportion of all alleles at a locus that are the allele in question
Allogeneic - CORRECT ANSWER: Describing cell and organ transplantation (or the
transplanted cells) in which the donor cells are genetically different from that of the recipient
Aneuploidy - CORRECT ANSWER: A chromosome constitution with one or more
chromosomes extra or missing from a full (euploid) set
Anticipation - CORRECT ANSWER: The tendency for the severity of a condition to
increase in successive generations 2 / 3
Assisted reproductive technology studies modeled in mice have demonstrated...
- intracytoplasmic sperm injection induces primary epimutations
- altered the patterns of DNA methylation
- altered imprinting patterns that are transmitted to subsequent generations
D) modified splice site junctions - CORRECT ANSWER: A) intracytoplasmic sperm
injection induces primary epimutations
Augmentation Therapy - CORRECT ANSWER: Therapy that is intended to supplement
some deficiency, as opposed to the great majority of drug therapies that are designed to inhibit some disease process
Autologous - CORRECT ANSWER: Describing cell and organ transplantation in which
the donor cells originally came from the recipient and have been modified in some way before being transplanted back again
Balancing Selection - CORRECT ANSWER: Selection working simultaneously in
opposite directions on the same variant; can result in heterozygotes for a harmful mutation having a higher biological fitness than normal homozygotes
Barr Body - CORRECT ANSWER: X chromosome induced to form a highly condensed
chromosome that is mostly transcriptionally inactive, that is, an X chromosome inactivated through X-chromosome inactivation
Blastocyst - CORRECT ANSWER: An embryo at a very early stage of development
when it consists of a hollow ball of cells with a fluid-filled internal compartment
Carrier - CORRECT ANSWER: A person, usually asymptomatic, who carries a genetic
variant that can cause disease after being transmitted to the next generation, or that can contribute to disease in later life
Chimera - CORRECT ANSWER: An organism derived from more than one zygote
Chromatid - CORRECT ANSWER: One pair of sister chromatids that form when a
chromosome replicates and persist until the anaphase stage of mitosis
Chromatin Remodeling - CORRECT ANSWER: Movement, dissociation, or
reconstitution of nucleosomes in chromatin, as part of the systems controlling chromatin conformation
Chromosomal Microarray Analysis - CORRECT ANSWER: Clinical application of
microarray hybridization; the usual object is to scan a genomic DNA sample for changes in copy number (deletions or duplications) of large DNA segments
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