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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. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
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
Cre - lox system
PFK - rate limiting enzyme
Pseudomonas and s aureus

2. How does patients present with ADPKD
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
2 -4 DNP - aspirin
Promotor - TATA box - and CAAT box - AT rich
Flank pain - hematuria - HTN - progressive renal failure

3. What is the treatment for orotic aciduria
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Glycogen and FFA oxidation; glucose conserved for final sprinting
PCR - denaturation - annealing - elongation
Oral uridine administration

4. What kind of branches do glycogen branches have
CTG
Uses ATP to add high energy phophate group onto substrate
Alpha 1 -6 and alpha 1 -4
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

5. What are covalent alterations
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
CTG
SnRNPs and other proteins
Phosphorylation - glycosylation - hydroxylation

6. What is linkage disequilibrium
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
UGA - UAA and UAG

7. What is kartageners syndrome
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Wobble
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Alpha 1 -6 and alpha 1 -4

8. What does Alports syndrome cause and why
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
25OHD3

9. What is maternal PKU
Dopa decarboxylase
Myeloperoxidase
Ketone - methyl
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

10. How is ammonium transported from muscle to the liver for urea cycle
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Phosphorylation - glycosylation - hydroxylation

11. Is there any requirement for homology in NHEJ
Inc insulin - dec cAMP - dec PKA
No - its non homologous
Protein
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 is the exception to genetic redundancy
Methionine encode by only 1 codon (AUG)
Initiate chains
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
2 rings

13. What fxn does glucokinase serve in the liver
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
RNA
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
PCR - denaturation - annealing - elongation

14. What is NADPH's role inside RBCs
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Keep glutathione reduced so it can detoxify free radicals and peroxides
Prevent strands from reannealing
No - its non homologous

15. What converts NE to epi
Rotenone - CN- - antimycin A - CO
Neural tube
Phenylethamolamine N methyl transferase
Neither of 2 alleles is dominant - blood groups

16. What is the most abundant protein in the body
Tyrosine
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Collagen
Only processed RNA

17. What converts tyrosine to DOPA
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Tryosine hydroxylase
Phenylalanine hydroxylase
Superoxide dismutase

18. What defects characterize velocardiofacial syndrome
High output cardiac failure - dilated cardiomyopathy - edema
Unwinds DNA template at replcation fork
Palate - facial and cardiac defects
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

19. What does Ehlers Danlos cause and why
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Glycolysis and aerobic respiration
RNA
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

20. What are purines made from
No
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Unmethylated - newly synthesized - HNPCC
IMP precursor

21. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
Failure to track objects or develop a social smile
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding

22. What is the breakdown product of epi
Procollagen - triple helix of 3 alpha collagen chains
ATP - citrate
Metanephrine
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

23. Which amino acids are elastin rich in
Accelearted muscle breakdown
Proline and glycine (non glycosylated forms)
Neg to pos
Rb and p53

24. recurrent pulmonary infxns in CF are due to what organisms
Pseudomonas and s aureus
After citruline
Breaks down acyl - coa to acetyl coa groups in mito
NADH - NADPH - FADH2

25. trinucleotide repeat fo myotonic dystrophy
CTG
Phenytoin - MTX - and sulfonamides
Two
Inc dicarboxylic acids - dec in glucose and ketones

26. What two proteins make up microtubules and how are they arranged
Alpha and beta tubulin - dimers have two GTP bound
MRNA - tRNA
17 - 17 letters in von Recklinghausen
Q -

27. What are the fat soluble vitamins and What does their absorption depend on...
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
ATP
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

28. What is the initial transcript called and What is the capped and tailed transcript called
GAA
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Von hippel lindau - 3
Alpha1 antitrypsin

29. What is dominant negative mutation and give an example
Antibiotic use or excessive ingestion of raw eggs
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
AMP - fructose 2 -6 BP
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding

30. Type IV BM
Stop codon is recognized by release factor - and completed protein is released from ribosome
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
4 under the floor
Neural tube

31. What catacholamine step is SAM required for
Defect in fibrillin
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Antioxidant - protects RBCs and membrances from free radical damage
Conversion of NE to epi

32. What does a northern blot use as its sample
Phenytoin - MTX - and sulfonamides
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Proline and glycine (non glycosylated forms)
RNA

33. What are cyclins
Result from phagocytic removal of heinz bodies my macs - G6PD def
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Oxidized hemoglobin precipiated within RBCs
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

34. What is the fxn of vit K
Dermatitis - glossitis - and diarrhea
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
CTG

35. What is the amino acid precuros for niacin and serotonin/melatonin
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Tryptophan
1 kind with multiple subunits

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

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37. In eukaryotes - What does RNA poly I make
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
PFK - rate limiting enzyme
RRNA
Anchor muscle fibers - primarily in skeletal and cardiac muscle

38. What is the composition of urea and where do each part derive from
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Microarrays
ATP
Neurofibromatosis type 1 (von Recklinghausens disease)

39. What is the activated carrier for Acyl
Coenzyme A - lipoamide
The triphosphate bond
UDP glucose pyrophosphorylase
Binds to LDL receptor - mediates VLDL secretion

40. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
VLDL
Dermatitis - glossitis - and diarrhea
Von hippel lindau - 3
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

41. How do cardia glycosides work
Flagella - cilia - mitotic spindles
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
SnRNPs
Oxidized hemoglobin precipiated within RBCs

42. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
OTC has hyperammonemia - orotic aciduira does not
APRT + PRPP
Infection - free radicals generated by inflammatory response
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

43. What does DNA poly I do?
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Cartilage - hyaline - vitreous body - nucleus pulposus
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Hereditary spherocytosis

44. What are possilbe presentation for galactokinase def
Failure to track objects or develop a social smile
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Paclitaxel
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

45. What is the RDE of ketogenesis
HMG- CoA synthase
Nissl body - enzyme and NTs
Glycogenolysis to form glucose
Fibrofatty replacement of muscle - cardiac myopathy

46. What does DNA ligase do
Not all individuals with a mutant genotype show the mutant phenotype
Adds an inorganic phosphate onto substrate without using ATP
CG- 3 > AT-2 - More CG content - melting point goes up
Seals.

47. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Karyotyping
Base + ribose + phosphate (3' -5') phosphodiester bond
Microtubules
PMNs

48. Gene imprinting implies that How many alleles are active at a single locus
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Cytosol - F 1 -6 BP to fructose 6 Phosphate
BOne
One

49. What is the RDE of fatty acid oxidation
ADPKD
Euchromatin
Carnitine acyltransferase I
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

50. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Acetly- CoA - CO2 - NADH
Specific glycosylases - AP endonuclease
Oxidized hemoglobin precipiated within RBCs
Debranching enzyme