GNRS 515 Advanced Pathophysiology
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DNA replication - ✔✔untwisted and zipped by hydrogen bonds being broken between
two pairs
DNA polymerase - ✔✔pairs new bases, aka complementary base pairing (ATCG)
Chromosome aberrations occur where? - ✔✔occurs among number or structure
Explain base pair substitution - ✔✔mutation where ATCG base pairing is mixed
Missense mutation - ✔✔A base-pair substitution that results in a codon that codes for a
different amino acid. The "sense" of the codon is altered
Nonsense mutation - ✔✔substitutions into a stop codon, but it is in the wrong place!
(quite dangerous)
Silent mutation - ✔✔nucleotide change does not affect amino acid
Frameshift mutation - ✔✔insertion or deletion of one or more base pairs. Changes the
entire reading frame of DNA sequence (also dangerous)
Codons - ✔✔consist of a group of three amino acids that start or stop DNA processing
Transcription - ✔✔DNA to RNA (uracil replaces thymine)
COPYRIGHT © 2025 BY SOPHIA BENNETT, ALL RIGHTS RESERVED 1
, Translation - ✔✔RNA to protein (uracil replaces thymine)
mRNA - ✔✔synthesized from DNA by RNA polymerase. Uses tRNA (by binding to
ribosome) to sequence amino acids
Transcription factors - ✔✔also binds to DNA & regulates the transcription timing. Can
turn on/off gene expression
Epigenetics - ✔✔is the study of heritable changes in gene expression (phenotype)
caused by mechanisms other than changes in DNA (nucleotide) sequences; e.g. when a
somatic cell divides (mitotic inheritance), when gametes are produced (germline
inheritance), or both
epigenetic modification - ✔✔Epigenetic modifications can cause individuals with the
same DNA sequences (such as identical twins) to have different disease profiles
functional mRNA - ✔✔carries genetic information from DNA to Ribosome present in
cytosol, where it is used as a template for protein synthesis
Introns (removed); exons - ✔✔which are the removed and remaining sequences after
remaining DNA sequences are spliced
exome - ✔✔remaining exon sequence
RNA splicing - ✔✔taking mRNA rough draft and making it into an mRNA final
sequence
tRNA - ✔✔directs protein synthesis with mRNA and has a site for attachment of an AA
(anticodon)
microRNA (miRNA) - ✔✔small RNA sequences that bind to specific mRNA sequences
& down-regulate their expression
COPYRIGHT © 2025 BY SOPHIA BENNETT, ALL RIGHTS RESERVED 2
Exam Questions and Answers 100%
Pass
DNA replication - ✔✔untwisted and zipped by hydrogen bonds being broken between
two pairs
DNA polymerase - ✔✔pairs new bases, aka complementary base pairing (ATCG)
Chromosome aberrations occur where? - ✔✔occurs among number or structure
Explain base pair substitution - ✔✔mutation where ATCG base pairing is mixed
Missense mutation - ✔✔A base-pair substitution that results in a codon that codes for a
different amino acid. The "sense" of the codon is altered
Nonsense mutation - ✔✔substitutions into a stop codon, but it is in the wrong place!
(quite dangerous)
Silent mutation - ✔✔nucleotide change does not affect amino acid
Frameshift mutation - ✔✔insertion or deletion of one or more base pairs. Changes the
entire reading frame of DNA sequence (also dangerous)
Codons - ✔✔consist of a group of three amino acids that start or stop DNA processing
Transcription - ✔✔DNA to RNA (uracil replaces thymine)
COPYRIGHT © 2025 BY SOPHIA BENNETT, ALL RIGHTS RESERVED 1
, Translation - ✔✔RNA to protein (uracil replaces thymine)
mRNA - ✔✔synthesized from DNA by RNA polymerase. Uses tRNA (by binding to
ribosome) to sequence amino acids
Transcription factors - ✔✔also binds to DNA & regulates the transcription timing. Can
turn on/off gene expression
Epigenetics - ✔✔is the study of heritable changes in gene expression (phenotype)
caused by mechanisms other than changes in DNA (nucleotide) sequences; e.g. when a
somatic cell divides (mitotic inheritance), when gametes are produced (germline
inheritance), or both
epigenetic modification - ✔✔Epigenetic modifications can cause individuals with the
same DNA sequences (such as identical twins) to have different disease profiles
functional mRNA - ✔✔carries genetic information from DNA to Ribosome present in
cytosol, where it is used as a template for protein synthesis
Introns (removed); exons - ✔✔which are the removed and remaining sequences after
remaining DNA sequences are spliced
exome - ✔✔remaining exon sequence
RNA splicing - ✔✔taking mRNA rough draft and making it into an mRNA final
sequence
tRNA - ✔✔directs protein synthesis with mRNA and has a site for attachment of an AA
(anticodon)
microRNA (miRNA) - ✔✔small RNA sequences that bind to specific mRNA sequences
& down-regulate their expression
COPYRIGHT © 2025 BY SOPHIA BENNETT, ALL RIGHTS RESERVED 2
