Genome and mutations Flashcards
(40 cards)
Any change in the information content of genetic material
Mutation
A change in the identity of an single base at a specific position in a nucleic acid sequence.
Point mutation
A point mutation involving the replacement of a purine base by another purine base or of a pyrimidine base by another pyrimidine base.
Transition
A point mutation involving the replacement of a purine base by a pyrimidine base or vice versa.
Transversion
What is the difference between missense and nonsense mutations?
Missense converts a codon specifiying an amino acid to another codon specifying a different amino acid. Nonsense converts a codon specifying an amino acid to a stop codon, which prematurely terminates translation.
Mutation that converts a stop codon into a codon that specifies an amino acid, causing translation to proceed beyond the codon
Readthrough
Mutation that inserts or deletes one or more nucleotide residues within a codon sequence, resulting in a shift in the reading frame of the sequence downstream.
Frameshift
Which of the following refers to the term, genome?
A. All genes B. All nuclear genes C. All nuclear and organellar genes D. All DNA sequences in haploid chromosomes E. All nuclear DNA
D
In comparative genomics, what aspects of the organism are being compared?
A. Metabolites
B. Genes
C. DNA sequences
D. Protein sequences
C
Which of the following would result from a silent mutation in a gene?
A. A truncated protein
B. A shift in the translational reading frame
C. The nucleotide sequence of the mRNA encoded by the gene remains unchanged
D. The amino acid sequence of the protein encoded by the gene remains unchanged
D
BLAST of your unknown protein gave a hit in the database for proteinase K with an e value of e—100 Which of the following would BEST characterize the genes encoding these two proteins?
A. They are functionally unrelated.
B. They function in the same tissue.
C. They encode a dimeric protein complex
D. They are derived from similar species.
D
Which of the following would BEST explain why in bacterial production of mammalian proteins, a cDNA is used rather than genomic DNA?
A. It is not possible to clone the entire coding region of the gene.
B. It is easier to clone cDNA than genomic DNA of comparable size.
C. It is easier to clone RNA than DNA.
D. Most eukaryotic genes have introns that cannot be removed in bacteria.
D
Which of the following is of LEAST importance in comparative genomics?
A. Subcellular structures
B. DNA sequences
C. Sequence alignment software
D. Sequence databases
A
In which level of comparative genomics resolution does synteny fall?
A. High
B. Medium
C. Low
D. None of the above
C
Which of the following drives a regulated endogenous mutation process?
A. Action of activation-induced cytidine deaminase (AID)
B. Spontaneous thymine-thymine dimerization
C. Activity of low fidelity polymerases
D. All of the above
E. A and C only
E
Which of the following statements is INCORRECT?
A. Point mutations may result in the production of truncated gene products.
B. Point mutations may have no effect on translated amino acid sequences.
C. Point mutations may produce shifts in reading frame.
D. Insertion-deletion mutations may produce shifts in reading frame.
C
Which of the following statements regarding comparative genomics is “INCORRECT”?
A. Gene orthologs in model organisms are utilized to correct defective human genes
B. Genomes of model organisms are compared for their evolutionary significance
C. Similarities in genomes define the “minimal genome concept” or the minimal gene set required for cellular life
D. Identification of gene orthologs helps annotate human genes
E. Mutations and associated phenotypic defects in model organisms help explain human genetic diseases
A
Which of the following are NOT properties of genes?
A. only undergo translation into a protein or a polypeptide
B. can be turned on or off
C. always carries heritable information
D. be classified into types depending on the RNA polymerase acting on them
E. may contain a coding region flanked by untranslated regions
A
Which of the following RNA are not directly involved in Class II gene expression?
A. snRNA B. rRNA C. snoRNA D. mRNA E. tRNA
C
Which of the following statements DOES NOT characterize the human genome?
A. Its estimated haploid size is 3 billions base pairs
B. A large portion of the genome (41.7%) has no known molecular function
C. The average gene size is 27 000 base pairs.
D. Repetitive sequences (Alu, MIR, MER, LTR & LINE) comprise 35.3% of the genome.
E. Some regions remained unsequenced due to their A+T content.
E
Which of the following statements is “CORRECT”?
A. There are more gene-coding sequences than junk genes in the human genome.
B. Telomeres and centromeres contain most of the household proteins.
C. Pseudogenes are important genome structures for rescuing gene malformation.
D. Alternative splicing accounts for more protein products relative to gene number.
E. The largest chromosome is the most gene-rich chromosome.
D
Which of the following biologic samples is ideal for genomic analysis?
A. WBC
B. Sperm
C. Hair
D. RBC
A
Which of the ff. statement does not refer to a gene?
A. Locatable region of a genomic sequence
B. Corresponds to the unit of inheritance
C. Associated with regulatory genes transcribed and other
functional sequence regions.
D. Region of the genome that is resistant to spontaneous
mutation
E. None of the above
E
Which of the following statements is correct?
A. The cell’s genome includes the totality of the DNA found in the nucleus
B. Any region in the genome can be utilized to estimate evolution in time
C. There are more score-able traits in the DNA sequence vis-a-vis morphological features
D. Evolution implies that all genes mutate at equivalent rates
E. To insure organism survival, exons must mutate faster
than introns
C