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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 causes Marfan syndrome
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
Arg - lys - his - arg is most basic - has has no charge at body pH
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Defect in fibrillin

2. NADPH are used In what 4 things
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
IMP precursor

3. What does arsenic do and What are th results of poisoning
Alpha 1 -4 glucosidase
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
MRNA - tRNA
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

4. 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
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
Lysine and leucine
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Proline and lysine - vit C

5. In a 1000 meter run - Where does energy come from
Cartilage - hyaline - vitreous body - nucleus pulposus
Same as sprint + OXPHOS
Mediates chylomicron secretion
Euchromatin

6. What is the hardy weinberg allele prevalence
CTG
N to C
P+q = 1
Q -

7. What is the purpose of the HMP shunt
AMP - fructose 2 -6 BP
Carbomoyl phosphate synthetase II
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

8. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Nissl body - enzyme and NTs
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
ATP

9. What does the TCA cycle produce per 1 acetyl CoA
B48 - AIV - CII - E
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

10. What does the CFTR channel do in the lungs - GI tract and skin
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Active secretion in lungs and GI - reabsorbs in skin
Chylomicrons

11. What happens in folate def
RER
Silencers
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Cleft palate - cardiac abnl - pregs test

12. What is the most abundant type of RNA
Exons
RRNA
Unmethylated - newly synthesized - HNPCC
Mediates extra remnant take up

13. characterize autosomal recessive inheritance
Foliage - small reserve in liver - eat green leaves
PFK - rate limiting enzyme
Orotate precursor - with PRPP added later
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

14. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Actin and myosin
Phenylketones in urine
THFs
Schwann cells - lens - retina - kidneys

15. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
NAD+
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Karyotyping
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

16. What shuttle is involved in fatty acid synthesis and What does it move From where to where
40 - 60 - 80
Citrate - acetyl coa from mito to cyto
F16BP
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

17. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Polyneuritis - symmetrical muscle wasting
Failure to track objects or develop a social smile
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

18. How does warfarin work
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Vit K antagonist

19. caf
Connective tissue
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
5' of the incoming nucleotide
Neurofibromatosis type 1 (von Recklinghausens disease)

20. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Neural tube
Stop codon is recognized by release factor - and completed protein is released from ribosome
Read from a fixed starting point as a continuous sequence of bases

21. delivers hepatic TGs to peripheral tissue - secreted by liver
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
VLDL
Scrutinizes - hydrolyzes the bond
Carnitine acyltransferase I

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

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23. What fxn does glucokinase serve in the liver
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Attachment of ubiquitin to defective proteins tag them for breakdown
Proline and lysine - vit C
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

24. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Rb and p53
Huntingtons
Von gierkes - glucose 6 phosphatase
FMR1 gene - methylation - associated with chromosomal breakage

25. In eukaryotes - What does RNA poly III make
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
TRNA
Hypoglycemia

26. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
HMG- CoA reductase
Flagella - cilia - mitotic spindles
Dermatitis - alopecia - enteritis

27. What is the wernicke - korsakoff clinical picture
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Polyneuritis - symmetrical muscle wasting
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

28. What are the findings in Down's syndrome
Inhibits RNA polymerase II - found in death cap mushrooms
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
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
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers

29. Type III collagen
Change resulting in early stop codon
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Type II

30. In eukaryotes - What does RNA poly II make
Fasting
Pseudomonas and s aureus
MRNA
Colchicine

31. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Oxidized hemoglobin precipiated within RBCs
Binds 50S - blocking translocation
Achondroplasia

32. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
HMG- CoA (HMG- CoA to mevalonate
Autosomal recessive diseases

33. What two rxns in in glycolysis require ATP
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Oxidizes substrate
GTP
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

34. What stretch of DNA that alters gene expression by binding of transcription factors
Ribos first then deoxyribos with ribonucleotide reductase
Enhancers
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Metanephrine

35. How is Lesch Neyhan inherited
X- linked recessive
Liver hepatocytes and steroid producing cells of the adrenal cortex
Epithelial cells
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

36. Which RNA poly opens DNA at promotor site
Schwann cells - lens - retina - kidneys
RNA poly II
Glucose -6 phosphate
Facial flushing

37. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
Exercise: inc NAD/NADH - inc ADP - inc Ca
Antioxidant - protects RBCs and membrances from free radical damage
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

38. What apolipoprotein is on LDL
Orotate precursor - with PRPP added later
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
B100

39. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Orotic acid to UMP
GTP
Malonyl coa

40. What is Retin A used topically for
Leu - lys
B100 and E
Wrinkles and acne
Carnitine shuttle - acyl - coa from cyto to mito

41. what disease can cause pellagra
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
GAA
Infection - free radicals generated by inflammatory response
Neural tube

42. What is linkage disequilibrium
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Disorder of aromatic amino acid metabolism
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Ile - phe - thr - trp

43. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
Dec DNA - dec lymphos leads to SCID
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Essential fructosuria - fructokinase AR
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

44. What is the smallest mutation a mircoarray can detect
Palate - facial and cardiac defects
SNP
Acetyl - CoA to malonyl - CoA (2C to 3C)
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

45. What are the purely ketogenic amino acids
Alpha 1 -6 and alpha 1 -4
Myeloperoxidase
Orotic acid to UMP
Leu - lys

46. What substance inside the cells replenishes NADPH
Four
G6PD
Modifies N- oligosaccharides
Acetyl - CoA to malonyl - CoA (2C to 3C)

47. How do cardia glycosides work
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Purines= A - G pyrimidine = C - T (U)
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Cytosol - F 1 -6 BP to fructose 6 Phosphate

48. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
CAG - 4
Leu - lys
Specific glycosylases - AP endonuclease
Glucose -6 phosphate

49. How does ouabain work
Acetyl - CoA to malonyl - CoA (2C to 3C)
Collagen
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Inhibits the Na/K pump by binding the K side

50. What does the vimentin stain for
Connective tissue
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
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
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer