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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What happens in vit K def
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Protein

2. What enzyme becomes essential in PKU
Liver - also in kidney and gut epithelium
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Tyrosine
NADPH

3. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Cytosol
Infection - free radicals generated by inflammatory response
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Mediates chylomicron secretion

4. What makes up a nucleotide

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5. What is the origin of replication
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Particular sequence of DNA where replicatino begins - may be single of multiple
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Mitochondria

6. What happens in zinc def
Dec DNA - dec lymphos leads to SCID
Cleft palate - cardiac abnl - pregs test
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

7. What enzyme results in classic galactosemia and What is the clinical
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
2 rings
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Glycolysis and aerobic respiration

8. What is the TX for PKU
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

9. What catacholamine step is SAM required for
CarTWOlage
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Conversion of NE to epi
Glycine - aspartate - glutamine

10. What enzyme converts adenine to AMP
APRT + PRPP
More than 1 codon may code for the same amino acid
Elastase - inhibited by alpha1 antitrypsin
High output cardiac failure - dilated cardiomyopathy - edema

11. What does universal genetic code refer to and What are some exception
Supply sufficient glucose to brain and RBCs and to preserve protein
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood

12. What are the results of pancreatic insuff in CF
Protective against malaria
Malabsorption and steatorrhea (ADEK)
Must be both activated and inactivated for cell cycle to progress
Glycogen phosphorylase

13. What is the rate limiting enzyme in cholesterol synthesis
Transmitted only through mother - all offspring of affected females may show signs of disease
HMG- CoA (HMG- CoA to mevalonate
Intermediate filaments
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

14. What activates the pyruvate dehydrogenase complex
Night blindness - dry skin
Exercise: inc NAD/NADH - inc ADP - inc Ca
Eu - methionine - pro - formyl - methionine
G6PD

15. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme
Essential fructosuria - fructokinase AR
5' to 3'
Orotic acid to UMP
Acetoacetate and beta hydroxybutyrate

16. Which direction does kinesin go
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
OTC has hyperammonemia - orotic aciduira does not
Autosomal recessive diseases
Neg to pos

17. How do cardia glycosides work
Met - val - arg his
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Transmitted only through mother - all offspring of affected females may show signs of disease
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

18. What 3 amino acids are necessary for purine synthesis
Glycine - aspartate - glutamine
The triphosphate bond
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Oligomycin

19. What happens with dry beriberi
Polyneuritis - symmetrical muscle wasting
Dermatitis - enteritis - alopecia - adrenal insuff
Mitochondria
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

20. What is the amino acid precursor for GABA and glutathione
Inc melt - dec fluidity
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Glutamate
VLDL

21. What is the Name and function of vit B1
Only processed RNA
Uses ATP to add high energy phophate group onto substrate
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

22. What causes Edwards syndrome and What is it
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Autosomal recessive diseases
LCAT (lecithin cholesterol acyltransferase)

23. The pyruvate dehydorgenase complex serves In what reaction: reactants
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Pyruvate - NAD+ - CoA
Rb and p53

24. What does apoCII do
Cofactor for LPL
1 -25 OH2 D3 = calcitriol
Muscle
Arg and his inc in histones Which bind negatively charged DNA

25. What does DNA poly I do?
No
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death

26. What are the irreversible enzymes of gluconeogenesis
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
FISH
Free ribosomes

27. What is the RDE of glycogen synthesis
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Glycogen synthase
Adenosine to inosine
Niacin - constituent of NAD and NADP - derived from tryptophan

28. Which enzyme involved in RNA synthesis does not require a template
Poly A polymerase - signal is AAUAA
Procollagen - triple helix of 3 alpha collagen chains
Keep glutathione reduced so it can detoxify free radicals and peroxides
Prevent strands from reannealing

29. Is there any requirement for homology in NHEJ
No - its non homologous
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Cytosol
Ketone - methyl

30. What substances directly inhibit electron transport chain
MEN - 2A and 2B with ret gene
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Rotenone - CN- - antimycin A - CO

31. What are the findings in PKU
Inc insulin - dec cAMP - dec PKA
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

32. Gene imprinting implies that How many alleles are active at a single locus
One
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
APKD1 on chromosome 16

33. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Cre - lox system
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Tuberous sclerosis
Neither of 2 alleles is dominant - blood groups

34. What are the findings in orotic aciduria
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Arginine
Paclitaxel
Poly A polymerase - signal is AAUAA

35. What occurs to oxaloacetate in starvation and DKA
Cytosol
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Rotenone - CN- - antimycin A - CO

36. What order kinetics does EtOH dehydrogenase have
Metanephrine
Blood - bone marrown - amniotic fluid - placental tissue
Zero
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

37. How does OTC def present
High output cardiac failure - dilated cardiomyopathy - edema
32 - malate aspartate shuttle
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

38. characterize x linked recessive
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
DsRNA promotes degradation of target mRNA knocking down gene expression
Inhibits the Na/K pump by binding the K side
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected

39. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
AR
Microtubules
Paclitaxel
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

40. What is mosaicism and give an example
EtOH dehydrogenase and acetaldehyde dehydrogenase
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
3' end (with CCA)
Disease

41. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
HMG- CoA reductase
Exons
Inc vit B6

42. What step of uric acid synthesis does xanthine oxidase catalyze
Hypoxanthine to xanthing and xanthine to uric acid
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Fasting
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

43. In eukaryotes - What does RNA poly II make
Tyrosine
MRNA
Neuralgia
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year

44. What are the characteristics of angelmans syndrome and How does it occur
Inc Cl - in sweat
Type II
Reads usual codon but inserts wrong AA
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

45. Which direction does dynein go
Post to neg
TTP
Fibrofatty replacement of muscle - cardiac myopathy
Phenylalanine hydroxylase

46. What does helicase do
Actin and myosin
Unwinds DNA template at replcation fork
Protective against malaria
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

47. What are the complications/signs of familial hypercholesterolemia
CGG
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Degredation of dietary TG in small intestine
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

48. In which state is FBPase -2 active
Fasting
Comlex II
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Alpha1 antitrypsin

49. What is the energy source in the fed state right after a meal
Methionine encode by only 1 codon (AUG)
Zero
Glycolysis and aerobic respiration
Collagen

50. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Liver - also in kidney and gut epithelium
Failure to track objects or develop a social smile
MEN - 2A and 2B with ret gene
VMA