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Biochemistry

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1. What does DNA poly III do?

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2. What is the RDE of glycogen synthesis
Glycogen synthase
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

3. Where is PEP carboxykinase found - What does it do - and What does it require
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
THFs
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Superoxide dismutase

4. What is the TX for hyper ammonemia
Protective against malaria
Phenytoin - MTX - and sulfonamides
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Myeloperoxidase

5. What does fomepizole do
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Alpha 1 -4 glucosidase
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

6. trinucleotide repeat fo myotonic dystrophy
Protective against malaria
CTG
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Accelearted muscle breakdown

7. What converts limit dextran to glucose
Debranching enzyme
Oral uridine administration
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
Keep glutathione reduced so it can detoxify free radicals and peroxides

8. What is locus heterogeneity and give an example
Collagen
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Acetly- CoA - CO2 - NADH

9. What is a nonsense mutation
NAD+
Cofactor for LPL
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Change resulting in early stop codon

10. What polar group does guanine have - and what non polar group does thymine have
Ketone - methyl
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

11. What does apoB100 do
Sucrose = glucose + fructose - lactose = glucose + galactose
Binds to LDL receptor - mediates VLDL secretion
B100 and E
Deamination

12. What is Gowers maneuver
Binds to LDL receptor - mediates VLDL secretion
Type II
Assistance of upper extremities to stand up
FAP

13. What catacholamine step is SAM required for
Glutamate
Conversion of NE to epi
Acetly- CoA - CO2 - NADH
Disorder of aromatic amino acid metabolism

14. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
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
CG- 3 > AT-2 - More CG content - melting point goes up
Disease
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

15. What happens in the first stage of collagen synthesis - and Where does it happen
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Malapsorption syndromes like sprue or CF or mineral oil intake
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

16. What ribosomes do eukaryotes have
Cre - lox system
TRNA
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
40 - 60 - 80

17. What apolipoprotein is on LDL
B100
3' end (with CCA)
Von Gierke's - Pompe - Cori - McArdle
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

18. What substances are uncouling agents
No
2 -4 DNP - aspirin
Protein kinase A
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

19. What occurs to oxaloacetate in starvation and DKA
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
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
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

20. Gene imprinting implies that How many alleles are active at a single locus
RER
One
HVA
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

21. What are cyclin - CDK complexes
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Catabolic processes to carry reducing equivalents away as NADH
Acetyl - CoA
Must be both activated and inactivated for cell cycle to progress

22. What is the results of vit B1 def
Elastase - inhibited by alpha1 antitrypsin
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Orotic acid to UMP

23. What does the golgi assemble proteoglycans from
Phosphorylation - glycosylation - hydroxylation
Myeloperoxidase
Lacks glucose 6 phophatase
Core proteins

24. What is the order of severity for the different types of mutations
Cyclin dependent kinases;constitutive and inactive
Proton gradient
Nonsense > missense > silent
BOne

25. This is the site where negative regulators bind
Silencers
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Enhancers

26. What happens in carnitine def
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Glycogen and FFA oxidation; glucose conserved for final sprinting
Malapsorption syndromes like sprue or CF or mineral oil intake

27. What 3 amino acids are necessary for purine synthesis
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Two
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Glycine - aspartate - glutamine

28. What clotting factors require vit K
Unwinds DNA template at replcation fork
Schilling test
Pyruvate to oxaloacetate (3C to 4C)
II - VII - IX - X (1972) protein C and S

29. What is the energy source in the fed state right after a meal
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Glycolysis and aerobic respiration
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Citrate - acetyl coa from mito to cyto

30. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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31. Infection with what organism can cause B12 def
Diphyllobothrium latum
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Binds 50S - blocking translocation
HMG- CoA reductase

32. What happens with wet beriberi
High output cardiac failure - dilated cardiomyopathy - edema
Cytosol
MRNA
Citrate - acetyl coa from mito to cyto

33. What does SAM do
Transfers methyl units
Read from a fixed starting point as a continuous sequence of bases
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Peroxide

34. Which direction does kinesin go
Neg to pos
Cre - lox system
APKD1 on chromosome 16
Thymic - parathyroid and cardiac

35. How does ouabain work
No - its non homologous
Mutated dystrophin gene - less severe - adolescence
Inhibits the Na/K pump by binding the K side
ATP

36. When are glycogen reserves depleted
PCR - denaturation - annealing - elongation
Wobble
After day 1
Familial hypercholesterolemia - hyperlipidemia type IIA

37. What are uncoupling agents
Proline and lysine - vit C
HDL
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Neg to pos

38. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
AR
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Facial flushing
Bind 30s subunit preventing attachment of aminoacyl - tRNA

39. What feedback inhibits hexokinase
African Americans and Asians
Change resulting in early stop codon
Microarrays
Glucose -6 phosphate

40. What is the longest time of RNA and shortest
Microarrays
MRNA - tRNA
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Foliage - small reserve in liver - eat green leaves

41. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Met - val - arg his
Marfans
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE

42. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Protective against malaria
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Proton gradient

43. What is codominance and give an example
Chylomicrons
Neither of 2 alleles is dominant - blood groups
No
DTMP

44. What else can phosphoylate phosphorylase kinase
Dec methionine - inc cystiene - inc B12/folate
Ca/calmodulin in muscle to coordinate with muscle activity
Cytosol - F 1 -6 BP to fructose 6 Phosphate
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

45. What is the Name and fxn of vit B12
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Scrutinizes - hydrolyzes the bond
Orotic acid to UMP

46. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Heterochromatin = HighlyCondensed
Inc melt - dec fluidity
Glycine - aspartate - glutamine

47. What does the primary transcript combine with to form the spliceosome
SnRNPs and other proteins
Change resulting in early stop codon
Mediates extra remnant take up
Glycolysis and aerobic respiration

48. What ribosomes do prokaryotes have
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
30 - 50 - 70
Glucose - 2Pi - 2ADP - 2NAD+
3' end (with CCA)

49. What is the defect in II A familial hypercholesterolemia
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Achondroplasia
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Cyclin dependent kinases;constitutive and inactive

50. What is the defect in cystinuria
Locus heterogeneity - ocular albinism is x- linked recessive
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
2 rings
B6

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Biochemistry

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