Biochemistry Flashcards
Explain the difference between the following mutations: a. silent, b. missense, c. nonsense, d. framshift
a. silent: nucleotide substitution, but it does not result in a different AA
b. missense: nucleotide substitution resulting in changed AA (sickle cell)
c. nonsense: nucleotide substitution resulting in early stop codon
d. frameshift: deletion or insertion of a number of nucleotides not divisible by 3 (Tay-Sachs, Duchenne, familial hypercholesterolemia)
In eukaryotes, are the introns are exons what makes the mRNA?
exons.
What does p53 do?
Regulates the cell cycle from going from G1 to S.
What happens in the S phase of the cell cycle?
DNA is replicated.
How many types of collagen are there?
4
I. most common, bone, skin, tendons, dentin, fascia, cornea, late wound repair
II. cartilage, nucleus pulposus,
III. reticulin- skin, blood vessels, uterus, fetal tissue, granulation tissue
IV. basement membrane, basal lamina, lens
What does the mnemonic “Be (So Totally) Cool, Read Books” refer to?
The types of cartilage.
I. Bone, Skin, Tendons
II. Cartilage
III. Reticulin (skin, blood vessels, uterus, fetal tissue, granulation tissue)
IV. Basement membrane
Tell me about osteogenesis imperfecta.
- AD, decreased Type I collagen.
- lots of fractures
- blue sclerae
- hearing loss
- dental problems
What does the mnemonic “SNoW DRoP” refer to?
blotting procedures:
Southern: DNA
Northern: RNA
Western: Protein
What is the Hardy-Weinberg equation? What are 4 requirements?
p^2 + 2pq + q^2 = 1, p + q = 1
p^2 = frequency of homozygotes for p q^2 = frequency of homozygotes for q
4 rules:
a. no mutations
b. no natural selection
c. random mating
d. no net migration
What diseases are a result of B1 deficiency?
Wenicke-Korsakoff: confusion, confabulation, ataxia, opthalmoplegia.
Wet Beriberi: high-output cardiac failure, edema
Dry Beriberi: polyneuritis, symmetrical muscle wasting
(think: Ber1Ber1)
In the electron transport chain, how many ATP per NADH? Per FADH2?
NADH = 3 ATP FADH2 = 2 ATP
Heinz bodies and bite cells are signs of what?
G6P deficiency.
What are the glucogenic essential AAs?
methionine, valine, histidine
What are the glucogenic/ketogenic essential AAs?
isoleucine, phenylalanine, threonine, tryptophan
What are the ketogenic essential AAs?
leucine, lysine
*PDH deficiency gets ketogenic AAs are tx
What is the mnemonic “Ordinarily, Careless Crappers Are Also Frivolous About Urination.”
Urea cycle:
Ornithine Carbamoyl phosphate Citrulline Aspartate Argininosuccinate Fumarate Arginine Urea
What are the branched amino acids? What disease is associated with them?
Isoleucine, Leucine, Valine.
I Love Vermont Maple Syrup (maple syrup urine disease)
Tell me about Fabry disease
ANGIOKERATOMAS, renal/CV disease, pheripheral neuropathy.
alpha-galactosidase A is the deficient enzyme
ceramide trihexoside is the accumulated substrate
XR (Hunter Syndrome is too)
Tell me about Gaucher disease
ASEPTIC NECROSIS OF FEMUR, hepatosplenomegaly, pancytopenia
glucocerebrosidase (beta-glucosidase) is the deficient enzyme
glucocerebroside is the accumulated substrate
AR
Tell me about Neimann-Pick disease
“CHERRY-RED” spot on macula, progressive neurodegeneration, hepatosplenomegaly, foam cells
sphingomyelinase is deficient enzyme
sphingomyelin is the accumulated substrate
AR
he PICKS his nose with his SPHINGER
Tell me about Tay-Sachs
“CHERRY-RED” spot on macula, progressive neurodegeneration, developmental delay
hexosaminidase A is deficient enzyme
GM2 ganglioside is the accumulated substrate
AR
saX laX heXosaminidase
Tell me about Hurler syndrome
CORNEAL CLOUDING, gargoylism, airway obstruction, hepatosplenomegaly
alpha-L-iduronidase is deficient enzyme
heparan sulfate and dermatan sulfate are accumulated substrates
AR
Tell me about Hunter syndrome
mild Hurler syndrome + aggressive behavior (no corneal clouding)
iduronate sulfatase is the deficient enzyme
heparan sulfate and dermatan sulfate are accumulated substrates
XR (Fabry disease is too)
