1|Page
NR605 Final Exam Complete Test , Practice Questions,
Verified Answer Key, and Study Guide||Verified
Exam!!! (2026 Edition) | Most Recent Exam 2026
Actual Complete Real Exam Questions And Correct
Answers (Verified Answers) Already Graded A+
||Newest Exam!!
______ means the gene or genes for a trait are expressed
in all the population who have the genes - Answer-
Complete penetrance
_____ refers to the degree that a particular genotype is
expressed as a phenotype within an individual - Answer-
Expressivity
T/F: The onset for autosomal recessive disorders is often
delayed - Answer-False!
Onset is usually early in life
Autosomal recessive disorders often affect... - Answer-
enzymes
,2|Page
X-linked disorders only affect... - Answer-Males
T/F: Most X-linked disorders are recessive - Answer-True!
Example = hemophilia or G6PD deficiency
T/F: If a father has an X-linked disorder, all of his
daughters will be carriers - Answer-True!
Single gene mutations can cause enzyme defects which
can lead to... - Answer-accumulation of substrate, lack of
product, or failure to inactivate a protein which causes
damage
Marfan syndrome is the result of a ____ defect - Answer-
Fibrillin-1
Autosomal dominant disorder
,3|Page
70-80% of cases are familial
What are some key features of Marfan syndrome? -
Answer-- long, tall extremities, elongated digits
(arachnodactyly)
- bilateral dislocation of the lens of the eye
- aorta aneurysm/dissection
- floppy mitral valve sydrome
T/F: Floppy mitral valve syndrome is associated with
Marfan syndrome and can lead to cardiac failure - Answer-
True!
What is the most typical cause of death for an individual
with Marfan syndrome? - Answer-aortic
aneurysm/dissection
What is the molecular basis of Ehler's-Danlos syndrome? -
Answer-deficient collagen synthesis
90% of cases involve deficient synthesis of type V
collagen
, 4|Page
Hyperextensible skin and hyperflexible joints are
characteristics of what disorder? - Answer-Ehler's Danlos
Syndrome
T/F: Ehler's-Danlos can cause blindness and
diaphragmatic hernia - Answer-True!
Familial hypercholesterolemia can result in early-onset... -
Answer-atherosclerosis
What disorder involves a mutation in the gene that
encodes the receptor for low-density lipoprotein (LDL)? -
Answer-Familial hypercholesterolemia
Familial hypercholesterolemia can result in cholesterol-rich
deposits in soft tissues called ____ - Answer-xanthomas
T/F: Heterozygotes for familial hypercholesterolemia are
typically symptomatic in childhood - Answer-False!
Usually asymptomatic until adult life
NR605 Final Exam Complete Test , Practice Questions,
Verified Answer Key, and Study Guide||Verified
Exam!!! (2026 Edition) | Most Recent Exam 2026
Actual Complete Real Exam Questions And Correct
Answers (Verified Answers) Already Graded A+
||Newest Exam!!
______ means the gene or genes for a trait are expressed
in all the population who have the genes - Answer-
Complete penetrance
_____ refers to the degree that a particular genotype is
expressed as a phenotype within an individual - Answer-
Expressivity
T/F: The onset for autosomal recessive disorders is often
delayed - Answer-False!
Onset is usually early in life
Autosomal recessive disorders often affect... - Answer-
enzymes
,2|Page
X-linked disorders only affect... - Answer-Males
T/F: Most X-linked disorders are recessive - Answer-True!
Example = hemophilia or G6PD deficiency
T/F: If a father has an X-linked disorder, all of his
daughters will be carriers - Answer-True!
Single gene mutations can cause enzyme defects which
can lead to... - Answer-accumulation of substrate, lack of
product, or failure to inactivate a protein which causes
damage
Marfan syndrome is the result of a ____ defect - Answer-
Fibrillin-1
Autosomal dominant disorder
,3|Page
70-80% of cases are familial
What are some key features of Marfan syndrome? -
Answer-- long, tall extremities, elongated digits
(arachnodactyly)
- bilateral dislocation of the lens of the eye
- aorta aneurysm/dissection
- floppy mitral valve sydrome
T/F: Floppy mitral valve syndrome is associated with
Marfan syndrome and can lead to cardiac failure - Answer-
True!
What is the most typical cause of death for an individual
with Marfan syndrome? - Answer-aortic
aneurysm/dissection
What is the molecular basis of Ehler's-Danlos syndrome? -
Answer-deficient collagen synthesis
90% of cases involve deficient synthesis of type V
collagen
, 4|Page
Hyperextensible skin and hyperflexible joints are
characteristics of what disorder? - Answer-Ehler's Danlos
Syndrome
T/F: Ehler's-Danlos can cause blindness and
diaphragmatic hernia - Answer-True!
Familial hypercholesterolemia can result in early-onset... -
Answer-atherosclerosis
What disorder involves a mutation in the gene that
encodes the receptor for low-density lipoprotein (LDL)? -
Answer-Familial hypercholesterolemia
Familial hypercholesterolemia can result in cholesterol-rich
deposits in soft tissues called ____ - Answer-xanthomas
T/F: Heterozygotes for familial hypercholesterolemia are
typically symptomatic in childhood - Answer-False!
Usually asymptomatic until adult life
