Conditions/Drugs Q3

Question 1

Condition that can be detected using single gene sequencing on the NF1 gene

Answer 1

Neurofibromatosis type I

Question 2

X-linked recessive disorder that is the most common type of muscular dystrophy occurring in childhood

Answer 2

Duchenne muscular dystrophy (DMD)

Question 3

Inheritance pattern of Duchenne muscular dystrophy

Answer 3

X-linked recessive

Question 4

Expression of Duchenne muscular dystrophy in different sexes

Answer 4

Only males express the disease
Females are carriers
(X-linked recessive)

Question 5

Taking folic acid prior to conception lowers risk and teratogens elevate risk of this

Answer 5

Neural tube defects

Question 6

Cholera toxin binds to this

Answer 6

Ganglioside Gm1 in cell membrane, causes phosphorylation/activation of CFTR

Question 7

Cystic fibrosis has what effect on Cl- secretion?

Answer 7

Decreased Cl- secretion; increasing H2O absorption

Question 8

Cholera has what effect on Cl- secretion?

Answer 8

Increased Cl- secretion; decreased H2O absorption

Question 9

Molecule that is produced in excess during a small intestine bacterial overgrowth (SIBO)

Answer 9

Free ammonia NH3

Question 10

Small intestine bacterial overgrowth (SIBO) has what effect on pH?

Answer 10

pH Increased
(NH3 produced acts as base, reducing [H+])

Question 11

COPD has what effect on pH?

Answer 11

Decreased blood pH
(Poor exchange of CO2 for oxygen in the lungs, so blood [CO2] is high, producing more H+)

Question 12

Kidney stones may be formed by reduced transport of this molecule

Answer 12

Cystine

Question 13

Condition caused by mutations in a1 or a2 chains of type I collagen

Answer 13

Osteogenesis imperfecta

Question 14

Osteogenesis imperfecta is due to mutations in this

Answer 14

Type I collagen

Question 15

Condition caused by Vitamin C deficiency, altering collagen formation

Answer 15

Scurvy

Question 16

Condition involving hyperextensible skin, hypermobile joints, bruising/bleeding tendencies

Answer 16

Ehlers-Danlos syndrome

Question 17

Autosomal recessive disease caused by a point mutation of Glu to Val

Answer 17

Sickle cell anemia

Question 18

Heterozygotes with the allele for this condition are protected from malaria

Answer 18

Sickle cell anemia

Question 19

2 Conditions caused by accumulation of intra- and extracellular bundles and filaments that form plaques

Answer 19

Amyloid disease, Alzheimer’s disease

Question 20

Major component of plaques

Answer 20

Beta amyloid

Question 21

Condition due to the cytochrome b5 reductase/methemoglobin reductase system not being at adult levels until age 4

Answer 21

Blue baby syndrome

Question 22

Blue baby syndrome is due to this system not being at adult levels

Answer 22

Cytochrome b5 reductase/methemoglobin reductase system

Question 23

Rare X-linked recessive metabolic disorder caused by a defective ATP7A, resulting in impaired copper absorption/transport

Answer 23

Menkes disease

Question 24

Treatment for Menkes disease

Answer 24

Copper histidine

Question 25

Compound that is elevated soon after an MI, but disappears rapidly

Answer 25

Creatine phospokinase

Question 26

Compound that appears slower after an MI but persists for several days

Answer 26

LDH

Question 27

Compound that arises soon after an MI and persists for several days

Answer 27

Troponin

Question 28

Autosomal recessive disorder involving a mutated transporter of large, neutral amino acids like tryptophan
Leads to niacin deficiency

Answer 28

Hartnup disease

Question 29

Autosomal dominant disorder that is the most common form of short limbed dwarfing
Homozygous recessive is perinatally lethal condition

Answer 29

Achondroplasia

Question 30

Sacrococcygeal tumors can be from remnants of this
Contain tissues derived from all 3 germ layers
Can contain muscles, bones, any type

Answer 30

Primitive streak

Question 31

Condition where insufficient mesoderm is formed in the caudal most region of the embryo
Defective formation of lower limbs, genitourinary structures, lumbosacral vertebrae
Loss of mesoderm in the lumbosacral region can result in fusion of the limb buds
Associated with maternal diabetes

Answer 31

Caudal dysgenesis (sirenomelia)

Question 32

Transition-state analog that blocks bacterial cell wall synthesis

Answer 32

Penicillin

Question 33

Organophosphates (Malathion, Diisofluorophosphate, Sarin, and nerve gasses) covalently inhibits this type of enzyme

Answer 33

Serine hydrolases
(Trypsin, chymotrypsin, acetylcholinesterase, blood clotting enzymes)

Question 34

The cardiac glycosides (Ouabain, Digoxin, Digitoxin) inhibits this

Answer 34

P-class Na+ K+ ATPase pump

Question 35

Aspirin covalently inhibits this

Answer 35

Cyclo-oxygenase 1 and 2