MMSC491 Exam 2 2025/2026 Actual complete exam (Testing
Real Exam Questions) and verified Answers ( 100%
accurate)ALREADY GRADED A+/ GET IT RIGHT!!
what kind of pedigree does the image show? - ANSWER-
autosomal recessive
remember these usually skip
generations
what kind of pedigree does the image show? - ANSWER-
autosomal dominant
remember these rarely skip
generations!
what disease is caused by the missense mutation replaces a
charged glutamate
with a hydrophobic valine, resulting in a strong tendency to
aggregate when
deoxygenated resulting in deformed RBCs - ANSWER-
sicke cell anemia
what disease is caused by the two missense mutations
especially common, where not plasma concentrations are not
,high enough to protect lungs from damage by elastase over a
lifetime, esp in ppl who smoke
Affected individuals often develop emphysema, obstructive
lung disease - ANSWER-alpha1-antitrypsin deficiency
what disease is caused by the beta amyloid protein precursor
form extracellular
aggregates - ANSWER-
alzheimer's
what disease is caused by the alpha synuclein amyloid protein
precursor form
cytoplasmic aggregates - ANSWER-
parkinson's
what disease is caused by the PrPC amyloid protein
precursor form
extracellular aggregates - ANSWER-
prion disease
When problem is loss of normal function, something is
provided to patients to supplement severely depleted factor
Ex: cochlear implants for hereditary deafness, transplanting an
organ to supplement for the lack of a particular cell type, stem
,cell transplants - ANSWER-Supplementation therapies for
genetic deficiencies
Rather than a deficiency, there is a positively harmful effect that
can't be treated just by adding normal genes
Ex: corrective surgery (phenotypical, like for congenital heart
defects cleft lip/palate), therapies administered to inhibit
expression of harmful RNA (i.e. immunosuppressants) -
ANSWER-Treatment for disorders producing positively harmful
effects
Treating disease by removing an environmental trigger
Ex: metabolic disorders can be helped by taking away certain
foods - ANSWER-Treatment by altering disease susceptibility
when is augmentation therapy not viable? - ANSWER-It's
considered preventative rather than curative
It's a replacement rather than a supplementation
This means it can't supplement nor can it help autoimmune
diseases that overproduce
usually carried out by monooxygenases which add an oxygen
atom from molecular oxygen to produce a more polar
substance
, Can result in drug activation (turn a prodrug (inactive) into an
active form) - ANSWER-phase I reactions in drug metabolism
conjugate reactions, catalyzed by transferases that add one of
a variety of chemical groups
Commonly occur after phase 1 rxns have introduced a
molecular handle for attaching the secondary chemical group -
ANSWER-phase II reactions in drug metabolism
direct genetic modification of cells to achieve a therapeutic
goal - ANSWER-
gene
therapy
which tandem repeat disorders cause a loss of function -
ANSWER-fragile x
syndrome
which tandem repeat disorders cause a gain of function -
ANSWER-myotonic
dystrophy, huntington
disease
A mutant allele making a protein that antagonizes the
protein made by the
Real Exam Questions) and verified Answers ( 100%
accurate)ALREADY GRADED A+/ GET IT RIGHT!!
what kind of pedigree does the image show? - ANSWER-
autosomal recessive
remember these usually skip
generations
what kind of pedigree does the image show? - ANSWER-
autosomal dominant
remember these rarely skip
generations!
what disease is caused by the missense mutation replaces a
charged glutamate
with a hydrophobic valine, resulting in a strong tendency to
aggregate when
deoxygenated resulting in deformed RBCs - ANSWER-
sicke cell anemia
what disease is caused by the two missense mutations
especially common, where not plasma concentrations are not
,high enough to protect lungs from damage by elastase over a
lifetime, esp in ppl who smoke
Affected individuals often develop emphysema, obstructive
lung disease - ANSWER-alpha1-antitrypsin deficiency
what disease is caused by the beta amyloid protein precursor
form extracellular
aggregates - ANSWER-
alzheimer's
what disease is caused by the alpha synuclein amyloid protein
precursor form
cytoplasmic aggregates - ANSWER-
parkinson's
what disease is caused by the PrPC amyloid protein
precursor form
extracellular aggregates - ANSWER-
prion disease
When problem is loss of normal function, something is
provided to patients to supplement severely depleted factor
Ex: cochlear implants for hereditary deafness, transplanting an
organ to supplement for the lack of a particular cell type, stem
,cell transplants - ANSWER-Supplementation therapies for
genetic deficiencies
Rather than a deficiency, there is a positively harmful effect that
can't be treated just by adding normal genes
Ex: corrective surgery (phenotypical, like for congenital heart
defects cleft lip/palate), therapies administered to inhibit
expression of harmful RNA (i.e. immunosuppressants) -
ANSWER-Treatment for disorders producing positively harmful
effects
Treating disease by removing an environmental trigger
Ex: metabolic disorders can be helped by taking away certain
foods - ANSWER-Treatment by altering disease susceptibility
when is augmentation therapy not viable? - ANSWER-It's
considered preventative rather than curative
It's a replacement rather than a supplementation
This means it can't supplement nor can it help autoimmune
diseases that overproduce
usually carried out by monooxygenases which add an oxygen
atom from molecular oxygen to produce a more polar
substance
, Can result in drug activation (turn a prodrug (inactive) into an
active form) - ANSWER-phase I reactions in drug metabolism
conjugate reactions, catalyzed by transferases that add one of
a variety of chemical groups
Commonly occur after phase 1 rxns have introduced a
molecular handle for attaching the secondary chemical group -
ANSWER-phase II reactions in drug metabolism
direct genetic modification of cells to achieve a therapeutic
goal - ANSWER-
gene
therapy
which tandem repeat disorders cause a loss of function -
ANSWER-fragile x
syndrome
which tandem repeat disorders cause a gain of function -
ANSWER-myotonic
dystrophy, huntington
disease
A mutant allele making a protein that antagonizes the
protein made by the
