mbg exam 2 questions and answers graded A+ lates
update
1. how many genetic what did imaging reveal abou
hypertensions risk the structural composition
variations are there? of the pa- tient?
2. roughly how much does
genome sequencing cost
currently?
3. many of the diseases in our
pedi- grees are or
diseases, being a
pri- mary example
4. name the four gene
identification methods.
5. what was the earliest gene
identi- fication method
utilized?
6. (CASE 1 PKU)
list the physical appearances
of the child affected with
PKU
7. (CASE 1 PKU)
what were the lab findings?
8. (CASE 1 PKU)
1/
87
,mbg exam 2 questions and answers graded A+ lates
update
at least one thousand, if not many thousands of SNP 4. whole genome
variants
sequencing functional
$600 - 1000
cloning
-blond hair & blue eyes
common or complex; hypertension -perspires heavily
-mentally retarded
-has a musty odor
elevated urinary phenylalanine & normal
1. functional cloning tetrahydro- biopterin (BH4)
2. positional cloning
delated bone age & areas of demyelination
3. genomic-wide association studies
2/
87
,mbg exam 2 questions and answers graded A+ lates
update
9. why is gene identification benefi- 1. helps w/ understanding pathophysiology o
disease
cial when trying to treat a disease? 2. permits testing
3. suggests possible treatment
10. what are the challenges that com- -genome is massive (6 billion bases)
plicate gene identification? 15. absence or mutation of which
en- zyme results in
phenylketonuria
11. which type of cloning is
primari- ly utilized for gene
identification in mendelian
diseases, such as
phenylketonuria (PKU)?
12. which type of cloning can
help identify genes that
cause both mendelian
diseases or complex
common diseases?
13. when is functional cloning
uti- lized?
14. functional cloning is specific
for
diseases, and looks for genes
that code for
3/
87
,mbg exam 2 questions and answers graded A+ lates
update
of genome is repeat sequences
e are 21000 genes functional
cloning
onal cloning
or gene product causing the mendelian disease is
known
now what gene is causing the disease, but we don't
know where its at yet
elian diseases ; genes that code for enzymes
ylalanine hydroxylase (PAH) ; converts phenylala-
nine to tyrosine
4/
87
update
1. how many genetic what did imaging reveal abou
hypertensions risk the structural composition
variations are there? of the pa- tient?
2. roughly how much does
genome sequencing cost
currently?
3. many of the diseases in our
pedi- grees are or
diseases, being a
pri- mary example
4. name the four gene
identification methods.
5. what was the earliest gene
identi- fication method
utilized?
6. (CASE 1 PKU)
list the physical appearances
of the child affected with
PKU
7. (CASE 1 PKU)
what were the lab findings?
8. (CASE 1 PKU)
1/
87
,mbg exam 2 questions and answers graded A+ lates
update
at least one thousand, if not many thousands of SNP 4. whole genome
variants
sequencing functional
$600 - 1000
cloning
-blond hair & blue eyes
common or complex; hypertension -perspires heavily
-mentally retarded
-has a musty odor
elevated urinary phenylalanine & normal
1. functional cloning tetrahydro- biopterin (BH4)
2. positional cloning
delated bone age & areas of demyelination
3. genomic-wide association studies
2/
87
,mbg exam 2 questions and answers graded A+ lates
update
9. why is gene identification benefi- 1. helps w/ understanding pathophysiology o
disease
cial when trying to treat a disease? 2. permits testing
3. suggests possible treatment
10. what are the challenges that com- -genome is massive (6 billion bases)
plicate gene identification? 15. absence or mutation of which
en- zyme results in
phenylketonuria
11. which type of cloning is
primari- ly utilized for gene
identification in mendelian
diseases, such as
phenylketonuria (PKU)?
12. which type of cloning can
help identify genes that
cause both mendelian
diseases or complex
common diseases?
13. when is functional cloning
uti- lized?
14. functional cloning is specific
for
diseases, and looks for genes
that code for
3/
87
,mbg exam 2 questions and answers graded A+ lates
update
of genome is repeat sequences
e are 21000 genes functional
cloning
onal cloning
or gene product causing the mendelian disease is
known
now what gene is causing the disease, but we don't
know where its at yet
elian diseases ; genes that code for enzymes
ylalanine hydroxylase (PAH) ; converts phenylala-
nine to tyrosine
4/
87
