ASCP Molecular Biology Exam Prep Questions with Correct Verified Answers
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Course
ASCP
Institution
ASCP
Will dads with an x-link dominant disorder have sons that have it? - ANSWER No. Dad will
have only given his good Y to have a boy
How does Fragile X break the first law of genetics? - ANSWER unstable and can change from
gene to gene
non-mendelian inheritance
Imprinting - ANSWER different expre...
ASCP Molecular Biology Exam Prep
Questions with Correct Verified Answers
Will dads with an x-link dominant disorder have sons that have it? - ANSWER No. Dad will
have only given his good Y to have a boy
How does Fragile X break the first law of genetics? - ANSWER unstable and can change from
gene to gene
non-mendelian inheritance
Imprinting - ANSWER different expression of gene depending on mom or dad
What kind of disorder is Fragile X? - ANSWER X-linked dominant
trinucleotide repeat disorder (CGG repeat expanded)
What method can you use to detect Fragile X? - ANSWER Southern blot
Mitochondrial Inheritance - ANSWER inheritated only from mother
all offspring affected if mother is affected
What method can you use to detect Sickle Cell anemia? - ANSWER RFLP
What is the most commom mutation mutation that causes cystic fibrosis? - ANSWER delta F508
,What are some methods that can be used to detect CF? - ANSWER PCR
RFLP
sequencing
dot blot/ reverse dot blot
What is hemochromatosis? - ANSWER iron overload syndrome
high gastrointestinal iron absorption
Hemochromatosis is what kind of disorder? - ANSWER autosomal recessive
single gene disorder
G to A transition (Cys to Tyr)
What are some methods that can detect hemochromatosis? - ANSWER PCR
RFLP
What mutation is responsible for hemochromatosis? - ANSWER C282Y
What are some methods that can detect thrombophilia? - ANSWER pre-mediated RFLP of
Factor V leidan
What is thrombophilia? - ANSWER defective proteins associated with coagulation
APC resistance - blocks activated protein C so coagulation is always on
Thrombophilia is what kind of mutation? - ANSWER point
mutation Factor V gene
, Muscular Dystrophy is what kind of disorder? - ANSWER x-linked recessive
trinucleotide repeat disorder
Muscular Dystrophy is associated with what other disorder? - ANSWER Duchenne & Becker
What methods can be used to detect muscular dystrophy mutations? - ANSWER southern blot
mutiplex PCR
How does the mutation cuase muscular dystrophy? - ANSWER exons deletions ---> proteins
are missing or truncated
How does galactosemia affect the body? - ANSWER can't degrade galactose correctly
build up of toxic levels of galactose 1-phophosphate ---> tissue damage
How does Gaucher disease affect the body? - ANSWER glucocerebrosidase enzyme doesn't
work correctly, which breaks down fatty substance in lysosome
causes cell to bloat
Alpha - Thalassemia - ANSWER a series of alpha-globin mutations
normal = 4 functional a-globin genes
silent carrier = 3 good, 1 mut
mild anemia, carrier = 2 good, 2 mut
symtomatic= 1 good, 3 mut
fatal = 4 deletions
Why are thalassemias found in areas like Africa, India SE Asia and the Caribbean? - ANSWER
Thalassemias offer some resistance to malaria, which is why they have not been weeded out
of malaria endemic populations
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