GNRS 515-ADVANCED PATHOPHYSIOLOGY EXAM| -REAL ACTUAL EXAM-
LATEST UPDATE 2025 | COMPLETE QUESTIONS WITH CORRECT DETAILED
AND VERIFIED ANSWERS | RATED 100% CORRECT!! ALREADY GRADED A+ |
GUARANTEED PASS!!
DNA replication - (answers)untwisted and zipped by hydrogen bonds being broken between two
pairs
DNA polymerase - (answers)pairs new bases, aka complementary base pairing (ATCG)
Chromosome aberrations occur where? - (answers)occurs among number or structure
Explain base pair substitution - (answers)mutation where ATCG base pairing is mixed
Missense mutation - (answers)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 - (answers)substitutions into a stop codon, but it is in the wrong place! (quite
dangerous)
Silent mutation - (answers)nucleotide change does not affect amino acid
Frameshift mutation - (answers)insertion or deletion of one or more base pairs. Changes the
entire reading frame of DNA sequence (also dangerous)
Codons - (answers)consist of a group of three amino acids that start or stop DNA processing
Transcription - (answers)DNA to RNA (uracil replaces thymine)
Translation - (answers)RNA to protein (uracil replaces thymine)
,mRNA - (answers)synthesized from DNA by RNA polymerase. Uses tRNA (by binding to
ribosome) to sequence amino acids
Transcription factors - (answers)also binds to DNA & regulates the transcription timing. Can
turn on/off gene expression
Epigenetics - (answers)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 - (answers)Epigenetic modifications can cause individuals with the same
DNA sequences (such as identical twins) to have different disease profiles
functional mRNA - (answers)carries genetic information from DNA to Ribosome present in
cytosol, where it is used as a template for protein synthesis
Introns (removed); exons - (answers)which are the removed and remaining sequences after
remaining DNA sequences are spliced
exome - (answers)remaining exon sequence
RNA splicing - (answers)taking mRNA rough draft and making it into an mRNA final sequence
tRNA - (answers)directs protein synthesis with mRNA and has a site for attachment of an AA
(anticodon)
microRNA (miRNA) - (answers)small RNA sequences that bind to specific mRNA sequences &
down-regulate their expression
small interfering RNA (siRNA) - (answers)used in cancer and gene therapy. not translated in
DNA sequence
,long noncoding RNA (lncRNA) - (answers)involved in gene regulation; the genome contains is
least 10k long
gamete or somatic cell, which one is sperm? - (answers)gamete: human sex cell
gamete composition - (answers)has 23 chromosomes (haploid cell)
autosome - (answers)first 22 of the 23 pairs of chromosomes (not the sex chromosome)
karyotype - (answers)ordered display of the pairs of chromosomes from a cell; according to size
How are homologous chromosomes paired together in a karyotype? - (answers)by length and
centromere location
Describe the two arms of the chromosome - (answers)all of them have it, and the center is at the
centromere
Chances of major chromosome abnormality - (answers)1 in 150 live births
Haploid vs. Diploid cell - (answers)23 vs 46
polyploid - (answers)more than the diploid number of chromosomes (low survivability, 10%
miscarriage)
triploidy - (answers)zygote with more than the four copies of each chromosome (92); (low
survivability - 10% miscarriage)
Aneuploidy - (answers)Abnormal number of chromosomes (not 23). If Y chromosome, fewer
problems due to minimal genetic material (males). X chromosome will be inactivated (silenced)
but a zygote with no X chromosome at all will not survive ; usually results from nondisjunction
, Trisomy - (answers)extra chromosome (three copies) - e.g. Down's; can occur on any
chromosome at conception, except for a few. Partial is when only an extra portion of
chromosome is present in each cell (remainder)
Monosomy - (answers)one copy of a chromosome; fatal
nondisjunction - (answers)Usually the cause of aneuploidy
Failure of homologous chromosomes or sister chromatids to separate normally during meiosis or
mitosis (still melted together)
chromosomal mosaics - (answers)Trisomies occurring only in SOME cells of the body; have
different CELL LINES, each with a different karyotype; usually formed by EARLY MITOTIC
nondisjunction occurring in one embryonic cell but not in others
Down's syndrome - (answers)1 in 800 live births; occurs with increasing maternal age;
individuals affected may develop Alzheimer's by age 40; caused by nondisjunction (97%) vs.
translocation (3%)
sex chromosome aneuploidy - (answers)-Turner's Syndrome (45, X); female
-Klinefelter Syndrome (47, XXY or XXXXXXXXY etc.); male appearance - tx w/ testosterone
generally less severe than autosomal
Trisomy X - (answers)female, xxx; common, no overt abnormalities, maybe a little sterility
Deletion & genetic example - (answers)can cause loss in a DNA sequence; Cri du chat sx--from
chromosome 5
duplication mutation - (answers)not as bad as deletion
LATEST UPDATE 2025 | COMPLETE QUESTIONS WITH CORRECT DETAILED
AND VERIFIED ANSWERS | RATED 100% CORRECT!! ALREADY GRADED A+ |
GUARANTEED PASS!!
DNA replication - (answers)untwisted and zipped by hydrogen bonds being broken between two
pairs
DNA polymerase - (answers)pairs new bases, aka complementary base pairing (ATCG)
Chromosome aberrations occur where? - (answers)occurs among number or structure
Explain base pair substitution - (answers)mutation where ATCG base pairing is mixed
Missense mutation - (answers)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 - (answers)substitutions into a stop codon, but it is in the wrong place! (quite
dangerous)
Silent mutation - (answers)nucleotide change does not affect amino acid
Frameshift mutation - (answers)insertion or deletion of one or more base pairs. Changes the
entire reading frame of DNA sequence (also dangerous)
Codons - (answers)consist of a group of three amino acids that start or stop DNA processing
Transcription - (answers)DNA to RNA (uracil replaces thymine)
Translation - (answers)RNA to protein (uracil replaces thymine)
,mRNA - (answers)synthesized from DNA by RNA polymerase. Uses tRNA (by binding to
ribosome) to sequence amino acids
Transcription factors - (answers)also binds to DNA & regulates the transcription timing. Can
turn on/off gene expression
Epigenetics - (answers)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 - (answers)Epigenetic modifications can cause individuals with the same
DNA sequences (such as identical twins) to have different disease profiles
functional mRNA - (answers)carries genetic information from DNA to Ribosome present in
cytosol, where it is used as a template for protein synthesis
Introns (removed); exons - (answers)which are the removed and remaining sequences after
remaining DNA sequences are spliced
exome - (answers)remaining exon sequence
RNA splicing - (answers)taking mRNA rough draft and making it into an mRNA final sequence
tRNA - (answers)directs protein synthesis with mRNA and has a site for attachment of an AA
(anticodon)
microRNA (miRNA) - (answers)small RNA sequences that bind to specific mRNA sequences &
down-regulate their expression
small interfering RNA (siRNA) - (answers)used in cancer and gene therapy. not translated in
DNA sequence
,long noncoding RNA (lncRNA) - (answers)involved in gene regulation; the genome contains is
least 10k long
gamete or somatic cell, which one is sperm? - (answers)gamete: human sex cell
gamete composition - (answers)has 23 chromosomes (haploid cell)
autosome - (answers)first 22 of the 23 pairs of chromosomes (not the sex chromosome)
karyotype - (answers)ordered display of the pairs of chromosomes from a cell; according to size
How are homologous chromosomes paired together in a karyotype? - (answers)by length and
centromere location
Describe the two arms of the chromosome - (answers)all of them have it, and the center is at the
centromere
Chances of major chromosome abnormality - (answers)1 in 150 live births
Haploid vs. Diploid cell - (answers)23 vs 46
polyploid - (answers)more than the diploid number of chromosomes (low survivability, 10%
miscarriage)
triploidy - (answers)zygote with more than the four copies of each chromosome (92); (low
survivability - 10% miscarriage)
Aneuploidy - (answers)Abnormal number of chromosomes (not 23). If Y chromosome, fewer
problems due to minimal genetic material (males). X chromosome will be inactivated (silenced)
but a zygote with no X chromosome at all will not survive ; usually results from nondisjunction
, Trisomy - (answers)extra chromosome (three copies) - e.g. Down's; can occur on any
chromosome at conception, except for a few. Partial is when only an extra portion of
chromosome is present in each cell (remainder)
Monosomy - (answers)one copy of a chromosome; fatal
nondisjunction - (answers)Usually the cause of aneuploidy
Failure of homologous chromosomes or sister chromatids to separate normally during meiosis or
mitosis (still melted together)
chromosomal mosaics - (answers)Trisomies occurring only in SOME cells of the body; have
different CELL LINES, each with a different karyotype; usually formed by EARLY MITOTIC
nondisjunction occurring in one embryonic cell but not in others
Down's syndrome - (answers)1 in 800 live births; occurs with increasing maternal age;
individuals affected may develop Alzheimer's by age 40; caused by nondisjunction (97%) vs.
translocation (3%)
sex chromosome aneuploidy - (answers)-Turner's Syndrome (45, X); female
-Klinefelter Syndrome (47, XXY or XXXXXXXXY etc.); male appearance - tx w/ testosterone
generally less severe than autosomal
Trisomy X - (answers)female, xxx; common, no overt abnormalities, maybe a little sterility
Deletion & genetic example - (answers)can cause loss in a DNA sequence; Cri du chat sx--from
chromosome 5
duplication mutation - (answers)not as bad as deletion
