Biochem Final

Front 1

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?

Back 1

PKD1

Front 2

The polycystin-2 protein is encoded by which of the following gene?

Back 2

PKD2

Front 3

Which of the following disease or diseases may be caused by mutations in the CFTR gene?

Back 3

CF and congenital bilateral absence of vas deferens

Front 4

The Pendrin protein is encoded by which of the following gene

Back 4

SLC26A4

Front 5

Which of the following gene or genes are involved in copper transport and metabolism

Back 5

ATP7A and ATP7B

Front 6

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

Back 6

Results in abnormally folded protein that is degraded before it reaches the membrane

Front 7

Which of the following accurately defines a protein that is attached to one face of a membrane by noncovalent interactions with other membrane proteins

Back 7

Peripheral membrane protein

Front 8

Which of the following types of proteins most commonly function as euakryotic transporter proteins

Back 8

Multipass-transmembrane proteins

Front 9

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"?

Back 9

ABC Transporter

Front 10

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?

Back 10

Ion-Channels

Front 11

Diastrophic dysplasia results from defects in the transport of

Back 11

sulfate ions

Front 12

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.

Back 12

True

Front 13

Menkes Syndrome results from disruptions in copper transport. The disruption occurs because of mutations in which of the following proteins

Back 13

ATP7A

Front 14

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.

Back 14

False

Front 15

After protein translation,all of the following molecules may be generally used to attached proteins to membranes except

Back 15

Cholesterol

Front 16

T/F: Transport by transporters can be active or passive, whereas transport by channels is always passive

Back 16

True

Front 17

Which of the following is likely to diffuse through the lipid layer most readily

Back 17

CO2

Front 18

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).

Back 18

false

Front 19

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.

Back 19

false

Front 20

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"?

Back 20

voltage gate Na channel

Front 21

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?

Back 21

transcellular transport

Front 22

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

Back 22

false

Front 23

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?

Back 23

Phosphatidylinositol

Front 24

Pendrin functions as

Back 24

A Na+- independent Cl-/I-/HCO3- transporter

Front 25

The transporter protein, mutations in which cause the Menkes' Syndrome, essentially functions as a

Back 25

ATPase

Front 26

Which of the following disease or diseases can have both an autosomal dominant and recessive pattern of inheritance?

Back 26

polysyctic kidney disease

Front 27

Which of the following disease or diseases shows a X-lined pattern of inheritance?

Back 27

Menkes

Front 28

Which of the following disease shows an autosomal recessive pattern of inheritance

Back 28

cystic fibrosis

Front 29

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)"?

Back 29

membrane potential

Front 30

T/F: The plasma membrane is highly impermeable to all charged molecules

Back 30

True

Front 31

Parkinson’s patients can also have Alzheimer’s Disease. A pathological feature of this patient group is:

Back 31

lewy bodies in nerve cells

Front 32

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:

Back 32

transcriptional repressor protein

Front 33

The genetic defect in Charot-Marie-Tooth disease Type 1A is best characterized as

Back 33

chrom dupe

Front 34

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?

Back 34

Schwwann cells

Front 35

Which of the following is not characterized as a sphingolipid storage disorder that results in lysosomal accumulation of lipid

Back 35

CMT

Front 36

Rett Syndrome, which molecular or diagnostic test would be the most informative, initially

Back 36

DNA seq

Front 37

In CMT disease, which molecular or diagnostic test would be the most informative, initially

Back 37

FISH

Front 38

In NPD-C, which molecular or diagnostic test would be the most informative, initially?

Back 38

blood protein or lipid analysis

Front 39

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

Back 39

E (A and C)

Front 40

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

Back 40

B (glial cells use neurotransmitters)

Front 41

Alzheimer’s can be due to

Back 41

Mutations in genes leading to increased beta-amyloid protein aggregation in brain cells

Front 42

Parkinson's can be due to

Back 42

Insufficient formation and action of dopamine

Front 43

Huntington's can be due to

Back 43

Expansion of a 5’ coding region CAG repeat

Front 44

ALS can be due to

Back 44

Cell death due to mutation in gene for enzyme responsible for fighting superoxide radical damage.

Front 45

spinocerebellar atrophy can be due to

Back 45

Molecular defect in all cases which is a CAG expansion resulting in a long polyglutamine tract

Front 46

The mode of inheritance in SCA1 is:

Back 46

auto dom

Front 47

The mode of inheritance in Rett syndrome is

Back 47

X Dom

Front 48

The mode of inheritance in Parkinson’s is

Back 48

auto dom

Front 49

The mode of inheritance in PreSenile Alzheimer’s is

Back 49

auto dom

Front 50

The mode of inheritance in F-ALS type 3,4,6,7,8 is

Back 50

auto dom

Front 51

Charot-Marie-Tooth disease Type 1A shows which mode of inheritance

Back 51

auto dom

Front 52

huntington's MOI

Back 52

auto dom

Front 53

What is the mode of inheritance for Niemann-Pick Type C disease:

Back 53

auto rec

Front 54

The most frequent genetic risk factor in Late-onset Alzheimer’s is

Back 54

ApoE4

Front 55

One of the genes affected in Familial Amyotrophic lateral sclerosis is

Back 55

SOD1

Front 56

One of the genes affected in Niemann-Pick Type C is

Back 56

NPC1

Front 57

One of the genes affected in PreSenile Familial Alzheimer’s Disease is

Back 57

APP

Front 58

One of the genes affected in Charcot-Marie-Tooth disease is

Back 58

NF-L

Front 59

One of the genes affected in Spinocerebellar Atrophy disease is

Back 59

one that codes for ataxin-1

Front 60

One of the genes affected in LaFora disease, an inherited form of epilepsy is

Back 60

EPM2A

Front 61

Which gene product does not interact with ApoE?

Back 61

PSEN1

Front 62

SNCA gene mutations DO NOT contribute to Parkinson’s Disease by

Back 62

protein aggregates in schwann cells

Front 63

Pathological features of Alzheimer’s disease are

Back 63

amyloid plaques and twisted fibers

Front 64

A potential treatment for Niemann-Pick 1C is

Back 64

cyclodextrin

Front 65

A potential treatment for Huntington’s disease is

Back 65

botox

Front 66

Lack of acetylcholinesterase in the synaptic cleft would result in

Back 66

Excessive, continuous stimulation of the muscle fiber

Front 67

Hydroxyapatite in bone matrix that gives bone its hardness is primarily composed of

Back 67

calcium and phosphates

Front 68

Myotonic Dystophy (MD) is a genetic disorder characterized by which of the following mutations?

Back 68

ampification of trinucleotide repeat

Front 69

The primary defect in Marfan syndrome involves

Back 69

structural protein

Front 70

Heart defects, particularly atrium septation is seen in 50% to 60% of patients with this genetic disorder

Back 70

EVC

Front 71

Which one of the following individuals, from the information given, is not an "obligate carrier" of the mutant disease causing gene in their family?

Back 71

father of boy with duchenne

Front 72

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?

Back 72

duchenne

Front 73

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?)

Back 73

duchenne

Front 74

Which of the following is TRUE regarding to peroxisomes?

Back 74

self-assembled, life span of one day