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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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1. What are cyclins
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
UGA - UAA and UAG
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

2. What is the origin of replication
Particular sequence of DNA where replicatino begins - may be single of multiple
Oxidizes substrate
Carnitine shuttle - acyl - coa from cyto to mito
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

3. What is the trinucleotide repeat in fragile X
CGG
Tryptophan
Dopamine beta hydroxylase
Citrate - acetyl coa from mito to cyto

4. What makes up a nucleoside
Base + ribose
Williams syndrome
Site of steroid synthesis and detoxification of drugs and poisons
ADPKD

5. What do the single stranded binding proteins do
Unwinds DNA template at replcation fork
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Cleft palate - cardiac abnl - pregs test
Prevent strands from reannealing

6. What substance in egg whites binds biotin
Keep glutathione reduced so it can detoxify free radicals and peroxides
Comlex II
Neither of 2 alleles is dominant - blood groups
Avidin

7. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Adenosine to inosine
X linked frame shif mutation
4 under the floor
CAG

8. What does the mutation in the gene cause in protein synthesis
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Abnormal protein folding - degradation before reaching cell surface
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Arginine

9. What test is used for B12 def
Schilling test
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Cytosol - F 1 -6 BP to fructose 6 Phosphate

10. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Glutamine PRPP amidotransferase
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Blood - bone marrown - amniotic fluid - placental tissue

11. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Type II
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Locus heterogeneity - ocular albinism is x- linked recessive
Prevent strands from reannealing

12. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Griseofulvin
Locus heterogeneity - ocular albinism is x- linked recessive
Oxalacetate
Von Gierke's - Pompe - Cori - McArdle

13. What is the result of vit B5 def
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Post to neg
Dermatitis - enteritis - alopecia - adrenal insuff
In ER - glucose 6- P to glucose

14. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
One
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Dermatitis - alopecia - enteritis
Euchromatin

15. How does abetalipoproteinemia present and What is the defect
CAG - 4
Nissl body - enzyme and NTs
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
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

16. What inhibits the carnitine shuttle
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Lacks glucose 6 phophatase
Malonyl coa
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

17. What is codominance and give an example
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Neither of 2 alleles is dominant - blood groups
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

18. Gene imprinting implies that How many alleles are active at a single locus
Glutamine PRPP amidotransferase
Accelearted muscle breakdown
Krabbes - galactocerebrosidase - galactocerebroside - AR
One

19. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Kidney - ears - eyes
Cleft palate - cardiac abnl - pregs test
Achondroplasia

20. What does the golgi add to serine and threonine residues
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
O- oligosaccharaides
Two
Transfers methyl units

21. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
SnRNPs and other proteins

22. What substance inside the cell reduces glutatione
NADPH
HGPRT - defective purine salvage - excess uric acid production
Protein kinase A
RNA

23. What is the activated carrier for electrons
NADH - NADPH - FADH2
Neural tube
Sulfation
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

24. What is the RDE of the HMP shunt
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Glucose 6 phosphate dehydrogenase (G6PD)
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Mutated dystrophin gene - less severe - adolescence

25. Where is vit B12 found
PFK - rate limiting enzyme
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
L form
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

26. What are the two transgenic strategies in mice
Glycogen phosphorylase
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Cartilage - hyaline - vitreous body - nucleus pulposus
DTMP

27. How do cardia glycosides work
1 kind with multiple subunits
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Glucose 6 phosphatase
Phenylketones in urine

28. How do odd chain fatty acids participate in gluconeogenesis
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
B48 - AIV - CII - E
P+q = 1
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

29. Which enzyme involved in RNA synthesis does not require a template
Poly A polymerase - signal is AAUAA
Unmethylated - newly synthesized - HNPCC
Proline and glycine (non glycosylated forms)
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

30. What is I cell disease
Cre - lox system
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

31. What kind of RNA is transported out of the nucleus
APC on chromosome 5
G6PD
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Only processed RNA

32. What is the name is fxn of vit B3
Niacin - constituent of NAD and NADP - derived from tryptophan
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
NF2 on chromosome 22
Peroxide

33. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Ketone - methyl
PCR - denaturation - annealing - elongation
UDP glucose pyrophosphorylase
Liver hepatocytes and steroid producing cells of the adrenal cortex

34. What does a phosphatase do
By inhibiting formation of the initiation complex and cause misreading of mRNA
Neuralgia
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Removes phosphate group from substrate

35. What is used to diagnose muscular dystrophies
Must be both activated and inactivated for cell cycle to progress
Transmitted only through mother - all offspring of affected females may show signs of disease
Inc CPK and muscle biopsy
Citrate - acetyl coa from mito to cyto

36. What are the physical findings of fragile x syndrome
Read from a fixed starting point as a continuous sequence of bases
Von hippel lindau - 3
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
AR

37. How do microtubules grow and collapse
Grows slowly - collapses quickly
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Phenylethamolamine N methyl transferase

38. What is the initial transcript called and What is the capped and tailed transcript called
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Purines= A - G pyrimidine = C - T (U)
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Activates LCAT

39. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Blood - bone marrown - amniotic fluid - placental tissue
Von hippel lindau - 3
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
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

40. What is the amino acid precuror for creatine - urea and nitric oxide
Arginine
Dopamine beta hydroxylase
Rotenone - CN- - antimycin A - CO
Robertsonian translocation and mosaicism

41. recurrent pulmonary infxns in CF are due to what organisms
Phenylethamolamine N methyl transferase
Particular sequence of DNA where replicatino begins - may be single of multiple
Pseudomonas and s aureus
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

42. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
P+q = 1
Glutamate

43. Describe robertsonian translocation
Dec methionine - inc cystiene - inc B12/folate
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
RRNA

44. What is NAD+ generally used for
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
Exons
Catabolic processes to carry reducing equivalents away as NADH
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

45. What does universal genetic code refer to and What are some exception
Consesus sequenec of base pairs
HGPRT - defective purine salvage - excess uric acid production
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
ATP and methionine

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

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47. What does apoA 1 do
Creat a nick in the helix to relieave supercoils created during replication
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Activates LCAT
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

48. Where is glucose 6 phosphatase found and What does it do
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
In ER - glucose 6- P to glucose
Supply sufficient glucose to brain and RBCs and to preserve protein
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

49. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Microarrays
DTMP
Only processed RNA
Malonyl coa

50. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Oxidized hemoglobin precipiated within RBCs
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Robertsonian translocation and mosaicism