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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. Where is acetaldehyde located
Protein kinase A
Mitochondria
Conversion of NE to epi
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

2. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Niacin - constituent of NAD and NADP - derived from tryptophan
Leu - lys
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

3. What is the Name and function of vit B2
Von hippel lindau - 3
17 - 17 letters in von Recklinghausen
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
SAM

4. What is the prevalence of an X- linked recessive disease in males and in females
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Q -
MRNA - tRNA
Kwashiorkor - small child with swollen belly

5. What are the symptoms of vit A excess
Dopamine beta hydroxylase
Intermediate filaments
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Covalent cross - linking by lysyl oxidase to make collagen fibrils

6. How is ammonium transported from muscle to the liver for urea cycle
2 rings
ATP and methionine
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
Actin and myosin

7. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
ATP - citrate
Neg to pos
B6

8. What rxn creates ATP
Asp and Glu
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
X- linked recessive
Particular sequence of DNA where replicatino begins - may be single of multiple

9. What is the main source of folate
P2 +2pq+ = 1
Dermatitis - alopecia - enteritis
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Foliage - small reserve in liver - eat green leaves

10. 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
UGA - UAA and UAG
Colchicine
ATP

11. Is there any requirement for homology in NHEJ
Type II
No - its non homologous
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
AR

12. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Alpha - ketoglutarate dehydrogenase complex
FMR1 gene - methylation - associated with chromosomal breakage
SnRNPs
GAA

13. Which phase of the HMP shunt is reversible and Which is irreversible
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Oxidative is irreversible
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
NF2 on chromosome 22

14. Which cells are rich in smooth ER
Liver hepatocytes and steroid producing cells of the adrenal cortex
RER
Medial dorsal nucleus of thalamus - mamillary bodies
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

15. What substance accumulates in galactokinase def and What is the clinical picture
1 -25 OH2 D3 = calcitriol
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Isocitrate dehydrogenase
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

16. What does apoCII do
Cofactor for LPL
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
CGG
Degredation of dietary TG in small intestine

17. What enzyme results in classic galactosemia and What is the clinical
Mediates extra remnant take up
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Anabolic processes as a supply of reducing equivalents

18. What is the activated carrier for electrons
Eu - methionine - pro - formyl - methionine
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Consesus sequenec of base pairs
NADH - NADPH - FADH2

19. Which amino acids are elastin rich in
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
HMG- CoA (HMG- CoA to mevalonate
Proline and glycine (non glycosylated forms)

20. What are the glucogenic/ketogenic amino acids
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Ile - phe - thr - trp
Failure to track objects or develop a social smile
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

21. How do you diagnose CFTR
2 rings
Particular sequence of DNA where replicatino begins - may be single of multiple
GTP
Inc Cl - in sweat

22. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
SnRNPs
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Autosomal recessive diseases

23. What does Citrate Is Krebs starting substrate for making oxaloacetate
Oxalacetate
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Q -
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

24. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Change resulting in early stop codon
Hereditary spherocytosis
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
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

25. How is orotic aciduria inherited
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
AR
Must be both activated and inactivated for cell cycle to progress
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

26. What causes Hartnup's disease
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
IMP precursor
Ketone - methyl
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

27. What substance inside the cell serves to oxidize glutatione
Glucose -6 phosphate
Peroxide
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
PFK - rate limiting enzyme

28. Which direction does dynein go
Post to neg
X- linked recessive
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
MRNA

29. What test is used for B12 def
CarTWOlage
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
Schilling test
Site of steroid synthesis and detoxification of drugs and poisons

30. What co - factors are required for the pyruvated dehydrogenase complex
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Cofactor for LPL
Mediates chylomicron secretion

31. What shuttle is used in fatty acid degredation and What does it move and From where to where
Blood - bone marrown - amniotic fluid - placental tissue
Carnitine shuttle - acyl - coa from cyto to mito
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Orotate precursor - with PRPP added later

32. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Lacks glucose 6 phophatase
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Sucrose = glucose + fructose - lactose = glucose + galactose
Leu - lys

33. How do permanent cells grow and regenerate and What are examples of permanent cells
Hyperlipidemia
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Oligomycin
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

34. What is Retin A used topically for
Autosomal recessive diseases
Inhibits the Na/K pump by binding the K side
Wrinkles and acne
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

35. What is the activated carrier for aldehyddes
TTP
Carbomoyl phosphate synthetase II
Peroxide
Activates LCAT

36. What are the two possible causes of albinism
Locus heterogeneity - ocular albinism is x- linked recessive
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
IDL
Polycystic liver disease - berry aneurysm - mitral valve prolapse

37. What two enzymes are involved in EtOH metabolism
Makes RNA primer on which DNA poly III can initiate replication
EtOH dehydrogenase and acetaldehyde dehydrogenase
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
F16BP

38. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
OTC has hyperammonemia - orotic aciduira does not
Microtubules
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

39. What causes biotin def
Antibiotic use or excessive ingestion of raw eggs
Hypoxanthine to xanthing and xanthine to uric acid
Inc dicarboxylic acids - dec in glucose and ketones
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

40. What substance inside the cell reduces glutatione
Pseudomonas and s aureus
32 - malate aspartate shuttle
Ribos first then deoxyribos with ribonucleotide reductase
NADPH

41. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
PFK - rate limiting enzyme
Von hippel lindau - 3
Cytosol - F 1 -6 BP to fructose 6 Phosphate

42. What does apoE do
BOne
Mediates extra remnant take up
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
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

43. What does DNA poly III do?

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44. Where is fructose 1 -6 bisphosphatase found and What does it do
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
African Americans and Asians
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

45. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Stop codon is recognized by release factor - and completed protein is released from ribosome
Carbomoyl phosphate synthetase I

46. RNA poly can't proofread - but What can it do
Stored ATP - creatine phosphate - anaerobic glycolysis
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Initiate chains
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

47. What does a phosphorylase do
Keep glutathione reduced so it can detoxify free radicals and peroxides
Basement membrane or basal lamina
Adds an inorganic phosphate onto substrate without using ATP
Unmethylated - newly synthesized - HNPCC

48. What is the activated carrier for 1 carbon units
THFs
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Glutamate

49. What is a silent mutation
Same AA - often base change in 3rd position of codon (tRNA wobble)
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Facial flushing

50. What is the energy source for tRNA actication (charging)
ATP
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Sulfation
Activates LCAT