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74 Cards in this Set

  • Front
  • Back
Mutations in which of the following gene or genes are responsible for about 85 percent of cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of this disorder?
The polycystin-2 protein is encoded by which of the following gene?
Which of the following disease or diseases may be caused by mutations in the CFTR gene?
CF and congenital bilateral absence of vas deferens
The Pendrin protein is encoded by which of the following gene
Which of the following gene or genes are involved in copper transport and metabolism
Seventy percent of cystic fibrosis patients have mutation that results in deletion of Pheylalanine at position 508 in the CFTR protein. How does this mutation affect the protein
Results in abnormally folded protein that is degraded before it reaches the membrane
Which of the following accurately defines a protein that is attached to one face of a membrane by noncovalent interactions with other membrane proteins
Peripheral membrane protein
Which of the following types of proteins most commonly function as euakryotic transporter proteins
Multipass-transmembrane proteins
Which of the following is best defined as a "large superfamily of membrane transport proteins that use the energy of ATP hydrolysis to transfer a wide variety of small molecules across membranes"?
ABC Transporter
Which of the following terms best describes a transmembrane protein complex that forms a water filled channel across the lipid bilayer through which specific inorganic ions can diffuse down their electrochemical gradient?
Diastrophic dysplasia results from defects in the transport of
sulfate ions
T/F: The ATP7A protein, which is important for copper transport can shuttle between its normal location in the Golgi to the cell membrane if copper levels are elevated.
Menkes Syndrome results from disruptions in copper transport. The disruption occurs because of mutations in which of the following proteins
T/F: Whereas all the carbohydrate in the plasma membranes faces outward on the external surface of the cell, all the carbohydrate on internal membranes faces toward the cytsol.
After protein translation,all of the following molecules may be generally used to attached proteins to membranes except
T/F: Transport by transporters can be active or passive, whereas transport by channels is always passive
Which of the following is likely to diffuse through the lipid layer most readily
T/F: A symporter would function as an antiporter if its orientation in the membrane were reversed (that is, if the portion of the protein normally exposed to the cytosol faced the outside of the cell instead).
T/F: Transporters saturate at high concentration of the transported molecule when all their binding sites are occupied; channels, on the other hand, do not bind the ions they transport and thus the flux of ions through a channel does not saturate.
Which of the following best describes "a membrane protein that selectively allows cations such as Na+ to cross a membrane in response to changes in membrane potential"?
voltage gate Na channel
Which of the following best describes transport of solutes across epithelium, by means of membrane transport proteins in the apical and basal surfaces of the epithelial cells?
transcellular transport
T/F: The resting membrane potential of a typical cell arises predominantly through the action of the sodium-potassium pump, which in each cycle transfers 3 Na+ ions out of the cell and 2 K+ ions into the cell, leaving an excess of negative charges inside the cell
Which one of the phospholipids listed below is present in very small quantities in the plasma membrane of mammalian cells, despite its crucial role in cell signaling?
Pendrin functions as
A Na+- independent Cl-/I-/HCO3- transporter
The transporter protein, mutations in which cause the Menkes' Syndrome, essentially functions as a
Which of the following disease or diseases can have both an autosomal dominant and recessive pattern of inheritance?
polysyctic kidney disease
Which of the following disease or diseases shows a X-lined pattern of inheritance?
Which of the following disease shows an autosomal recessive pattern of inheritance
cystic fibrosis
Which of the following best describes the "voltage difference across a membrane due to the slight excess of positive ions on one side and of negative ions on the other (typically -60 mV, inside negative, for an animal cell)"?
membrane potential
T/F: The plasma membrane is highly impermeable to all charged molecules
Parkinson’s patients can also have Alzheimer’s Disease. A pathological feature of this patient group is:
lewy bodies in nerve cells
In Rett syndrome, mutations in the MeCP2 gene are present in >75% of typical and atypical cases. What is the normal function of this gene:
transcriptional repressor protein
The genetic defect in Charot-Marie-Tooth disease Type 1A is best characterized as
chrom dupe
Charot-Marie-Tooth CMT1A disease is caused by mutations in the PMP-22 protein (peripheral myelin protein-22). This protein is found in what type of cell?
Schwwann cells
Which of the following is not characterized as a sphingolipid storage disorder that results in lysosomal accumulation of lipid
Rett Syndrome, which molecular or diagnostic test would be the most informative, initially
DNA seq
In CMT disease, which molecular or diagnostic test would be the most informative, initially
In NPD-C, which molecular or diagnostic test would be the most informative, initially?
blood protein or lipid analysis
Which of the following is correct?

A. Sensory neurons carry messages to the CNS

B. Motor neurons carry messages to the CNS

C. Motor neurons carry messages from the CNS to the skeletal muscles

D. Sensory neurons carry messages from the CNS to the skeletal muscles

E. A and C
E (A and C)
Which of the following is NOT correct?

A. Neurons have synapses and use neurotransmitters

B. Glial cells use neurotransmitters

C. Glial cells cannot generate action potentials

D. Neurons have axons and dendrites
B (glial cells use neurotransmitters)
Alzheimer’s can be due to
Mutations in genes leading to increased beta-amyloid protein aggregation in brain cells
Parkinson's can be due to
Insufficient formation and action of dopamine
Huntington's can be due to
Expansion of a 5’ coding region CAG repeat
ALS can be due to
Cell death due to mutation in gene for enzyme responsible for fighting superoxide radical damage.
spinocerebellar atrophy can be due to
Molecular defect in all cases which is a CAG expansion resulting in a long polyglutamine tract
The mode of inheritance in SCA1 is:
auto dom
The mode of inheritance in Rett syndrome is
X Dom
The mode of inheritance in Parkinson’s is
auto dom
The mode of inheritance in PreSenile Alzheimer’s is
auto dom
The mode of inheritance in F-ALS type 3,4,6,7,8 is
auto dom
Charot-Marie-Tooth disease Type 1A shows which mode of inheritance
auto dom
huntington's MOI
auto dom
What is the mode of inheritance for Niemann-Pick Type C disease:
auto rec
The most frequent genetic risk factor in Late-onset Alzheimer’s is
One of the genes affected in Familial Amyotrophic lateral sclerosis is
One of the genes affected in Niemann-Pick Type C is
One of the genes affected in PreSenile Familial Alzheimer’s Disease is
One of the genes affected in Charcot-Marie-Tooth disease is
One of the genes affected in Spinocerebellar Atrophy disease is
one that codes for ataxin-1
One of the genes affected in LaFora disease, an inherited form of epilepsy is
Which gene product does not interact with ApoE?
SNCA gene mutations DO NOT contribute to Parkinson’s Disease by
protein aggregates in schwann cells
Pathological features of Alzheimer’s disease are
amyloid plaques and twisted fibers
A potential treatment for Niemann-Pick 1C is
A potential treatment for Huntington’s disease is
Lack of acetylcholinesterase in the synaptic cleft would result in
Excessive, continuous stimulation of the muscle fiber
Hydroxyapatite in bone matrix that gives bone its hardness is primarily composed of
calcium and phosphates
Myotonic Dystophy (MD) is a genetic disorder characterized by which of the following mutations?
ampification of trinucleotide repeat
The primary defect in Marfan syndrome involves
structural protein
Heart defects, particularly atrium septation is seen in 50% to 60% of patients with this genetic disorder
Which one of the following individuals, from the information given, is not an "obligate carrier" of the mutant disease causing gene in their family?
father of boy with duchenne
A muscle biopsy shows chronic myopathic features incluuding increased amounts of fat and connective tissue and muscle necrosis. Chronic inflammation consisting of lymphocytes and macrophages were also noted. Immunoperoxidase studies also showed absence of staining with antibodies to dystrophin. What is your diagnosis?
In which of the following genetic disorders would you expect to find the highest proportion of patients with a new mutation (not present in either parent?)
Which of the following is TRUE regarding to peroxisomes?
self-assembled, life span of one day