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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. How do microtubules grow and collapse
Carnitine shuttle - acyl - coa from cyto to mito
Grows slowly - collapses quickly
Attachment of ubiquitin to defective proteins tag them for breakdown
Particular sequence of DNA where replicatino begins - may be single of multiple

2. What is pleiotropy and given an example
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Read from a fixed starting point as a continuous sequence of bases
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

3. What is the TX for pyruvate dehydrogenase deficiency
5' to 3'
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

4. Which anti gout drugs work on microtubules
Cre - lox system
Karyotyping
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Colchicine

5. What are the fetal screening measures for Down
Niacin - constituent of NAD and NADP - derived from tryptophan
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Result from phagocytic removal of heinz bodies my macs - G6PD def

6. What is the RDE of the HMP shunt
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Glucose 6 phosphate dehydrogenase (G6PD)
Polyneuritis - symmetrical muscle wasting
Locus heterogeneity - ocular albinism is x- linked recessive

7. How do macrolides and clindamycin work
Must be both activated and inactivated for cell cycle to progress
Locus heterogeneity - ocular albinism is x- linked recessive
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Binds 50S - blocking translocation

8. What is the RDE of glycogen synthesis
Site of steroid synthesis and detoxification of drugs and poisons
Glycogen synthase
Wrinkles and acne
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

9. Who typically has lactase def
African Americans and Asians
Intermediate filaments
Breaks down acyl - coa to acetyl coa groups in mito
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

10. FAP is due to deletion On what gene On what chromosome
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Malonyl coa
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
APC on chromosome 5

11. What is the active form of vit D
IMP precursor
Night blindness - dry skin
Inhibit DNA gyrase specific for prokaryotic topoisomerase
1 -25 OH2 D3 = calcitriol

12. I g fat = ? Kcal
Dec DNA - dec lymphos leads to SCID
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
Must be both activated and inactivated for cell cycle to progress
Nine

13. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Attachment of ubiquitin to defective proteins tag them for breakdown
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Alanine
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

14. How does insulin inhibit glycogenolysis
Site of steroid synthesis and detoxification of drugs and poisons
3' end (with CCA)
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

15. Name as many x- linked recessive disorders as you can

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16. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
PCR - denaturation - annealing - elongation
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Carbomoyl phosphate synthetase II

17. What is the amino acid precuror for creatine - urea and nitric oxide
Inc CPK and muscle biopsy
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Arginine
Cytosol - F 1 -6 BP to fructose 6 Phosphate

18. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Huntingtons
X linked frame shif mutation
Zero
VLDL

19. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Medial dorsal nucleus of thalamus - mamillary bodies

20. What is the structure of elastin
Achondroplasia
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Tropoelastin with fibrillin scafolding
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

21. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Adds 2 carbon with the help of biotin
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Protective against malaria

22. What is the treatment for cystathionine synthase def
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Dec methionine - inc cystiene - inc B12/folate
Foliage - small reserve in liver - eat green leaves
Williams syndrome

23. What is the trinucleotide repeat in fragile X
HMG- CoA (HMG- CoA to mevalonate
Mutated dystrophin gene - less severe - adolescence
Medial dorsal nucleus of thalamus - mamillary bodies
CGG

24. ADPKD is associated with What additional conditions
MEN - 2A and 2B with ret gene
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Oxidative is irreversible
N to C

25. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Unmethylated - newly synthesized - HNPCC
Nonsense > missense > silent
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
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

26. What does the golgi apparatus do on asparagine
Modifies N- oligosaccharides
NAD+
Liver - also in kidney and gut epithelium
Diphyllobothrium latum

27. Which enzyme involved in RNA synthesis does not require a template
Failure to track objects or develop a social smile
Heterochromatin = HighlyCondensed
Poly A polymerase - signal is AAUAA
Locus heterogeneity - ocular albinism is x- linked recessive

28. What is the function of Zinc
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Methionine encode by only 1 codon (AUG)
Nissl body - enzyme and NTs

29. What do neurofilaments stain for
Neurons
Phenylethamolamine N methyl transferase
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

30. What are the glucogenic essential amino acids
RNA poly II
Carnitine acyltransferase I
Met - val - arg his
LDL

31. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
X linked frame shif mutation
IDL
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

32. What is the function of folic acid
Each codon specifies only 1 amino acid
SnRNPs and other proteins
Unmethylated - newly synthesized - HNPCC
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

33. What produces NADPH
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
HMP shunt
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Keep glutathione reduced so it can detoxify free radicals and peroxides

34. What does the deletion of the dystrophin gene lead to...
Accelearted muscle breakdown
Microarrays
Achondroplasia
Foliage - small reserve in liver - eat green leaves

35. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Defect in fibrillin
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
DTMP

36. What shuttle is used in fatty acid degredation and What does it move and From where to where
Carnitine shuttle - acyl - coa from cyto to mito
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Inc Cl - in sweat
Activates LCAT

37. What are ketone bodies made from - where are they metabolized and how are they excreted
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Schwann cells - lens - retina - kidneys
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
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

38. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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39. What apolipoprotein is on LDL
B100
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
TTP
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

40. What initiates protein synthesis
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Huntingtons
Metanephrine

41. What does universal genetic code refer to and What are some exception
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
APRT + PRPP
Glycolysis and aerobic respiration
Q -

42. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
Kwashiorkor - small child with swollen belly
Mucus secreting globlet cells and antibody secreting plasma cells
BOne
HDL

43. Where is acetaldehyde located
Glycine
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
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Mitochondria

44. What is the Name and fxn of vit B12
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
IMP precursor
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

45. What enzyme converts phenylalanine to tyrosin
Phenylalanine hydroxylase
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
Glycogen phosphorylase
Intermediate filaments

46. What is the defect in cystinuria
Keep glutathione reduced so it can detoxify free radicals and peroxides
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Each codon specifies only 1 amino acid
Targets the proteins for lysosome

47. What step begins the urea cycle and What is the enzyme needed - Where does it happen
2 -4 DNP - aspirin
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Specific glycosylases - AP endonuclease
Disease

48. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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49. What does the golgi assemble proteoglycans from
Core proteins
Glycogen and FFA oxidation; glucose conserved for final sprinting
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Unwinds DNA template at replcation fork

50. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Orotic acid to UMP
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Proton gradient
Ribos first then deoxyribos with ribonucleotide reductase