Fundamental Molecular Biology 2,Elizabeth
Allison Exam Questions And Answers Verified
100% Correct
How would a loss-of-function allele for a gene that requires more than
one functioning copy behave? - ANSWER -Dominant
What are dominant mutations? - ANSWER -Mutations that are
expressed when present in one copy.
What is a gain-of-function mutation? - ANSWER -A mutation that
results in a protein with enhanced or new function.
What is the correlation between dominant mutations and gain-
offunction mutations? - ANSWER -Most gain-of-function mutations
are dominant.
What is incomplete dominance? - ANSWER -When having one mutant
allele is enough to change phenotype.
What happens in a heterozygote with incomplete dominance? -
ANSWER -Having one mutant allele is enough to not be normal.
What happens in a homozygote with incomplete dominance? -
ANSWER -Having two mutant alleles is worse or different.
Do geneticists worry about complete vs incomplete dominance? -
ANSWER -No, because having one mutant allele is enough to change
phenotype.
, In Gain-Of-Function mutation, mutant alleles can gain... - ANSWER -
A)more of a "normal" function (whatever that is) e.g.,
i) More active enzyme (e.g., RAS oncogene: stuck in "on" state) ii)
Produce more protein (hence more overall activity in the pool of
gene product)
B) new function (unrelated to what the normal gene does)
Presence or not of WT allele makes no difference
Achondroplasia - ANSWER -Most common form of dwarfism -
autosomal dominant
What are the two missense point mutations in FGFR3? - ANSWER -
N/A
What is the function of FGFR3? - ANSWER -Inhibit/slow limb growth
What happens to the mutant receptor of FGFR3? - ANSWER -Locked
in a more active state
Strange facts about achondroplasia. - ANSWER -•Only 20% have a
parent with achondroplasia
* 80% of the mutations are generated in a parent's germ line
(so called "de novo" [from new] mutations: one of those 200......)
Sorry: it's the guys
Allison Exam Questions And Answers Verified
100% Correct
How would a loss-of-function allele for a gene that requires more than
one functioning copy behave? - ANSWER -Dominant
What are dominant mutations? - ANSWER -Mutations that are
expressed when present in one copy.
What is a gain-of-function mutation? - ANSWER -A mutation that
results in a protein with enhanced or new function.
What is the correlation between dominant mutations and gain-
offunction mutations? - ANSWER -Most gain-of-function mutations
are dominant.
What is incomplete dominance? - ANSWER -When having one mutant
allele is enough to change phenotype.
What happens in a heterozygote with incomplete dominance? -
ANSWER -Having one mutant allele is enough to not be normal.
What happens in a homozygote with incomplete dominance? -
ANSWER -Having two mutant alleles is worse or different.
Do geneticists worry about complete vs incomplete dominance? -
ANSWER -No, because having one mutant allele is enough to change
phenotype.
, In Gain-Of-Function mutation, mutant alleles can gain... - ANSWER -
A)more of a "normal" function (whatever that is) e.g.,
i) More active enzyme (e.g., RAS oncogene: stuck in "on" state) ii)
Produce more protein (hence more overall activity in the pool of
gene product)
B) new function (unrelated to what the normal gene does)
Presence or not of WT allele makes no difference
Achondroplasia - ANSWER -Most common form of dwarfism -
autosomal dominant
What are the two missense point mutations in FGFR3? - ANSWER -
N/A
What is the function of FGFR3? - ANSWER -Inhibit/slow limb growth
What happens to the mutant receptor of FGFR3? - ANSWER -Locked
in a more active state
Strange facts about achondroplasia. - ANSWER -•Only 20% have a
parent with achondroplasia
* 80% of the mutations are generated in a parent's germ line
(so called "de novo" [from new] mutations: one of those 200......)
Sorry: it's the guys
