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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. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Phenytoin - MTX - and sulfonamides
Arg and his inc in histones Which bind negatively charged DNA
CFTR gene - 7 - Phe 508
Cyclin dependent kinases;constitutive and inactive

2. Which anti breast cancer drugs work on micortubules
4 under the floor
HGPRT - defective purine salvage - excess uric acid production
Phenylalanine hydroxylase
Paclitaxel

3. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
NADPH
Ribos first then deoxyribos with ribonucleotide reductase

4. characterize autosomal recessive inheritance
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Leu - lys
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

5. What does lipoprotein lipase do
Degredation of TG circulating in chylomicrons and VLDLs
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Oxidized hemoglobin precipiated within RBCs

6. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Inhibits 50S peptidyltransferase
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein

7. What happens in vit D excess
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Unwinds DNA template at replcation fork
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Each codon specifies only 1 amino acid

8. Which cells are rich in smooth ER
Deamination
Acetoacetate and beta hydroxybutyrate
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Liver hepatocytes and steroid producing cells of the adrenal cortex

9. What happens at the smooth ER
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Site of steroid synthesis and detoxification of drugs and poisons
Stored ATP - creatine phosphate - anaerobic glycolysis
Coenzyme A - lipoamide

10. What does inc phenylalanine lead to...
Abnormal protein folding - degradation before reaching cell surface
Phenylketones in urine
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Two

11. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

12. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Cyclin dependent kinases;constitutive and inactive
Karyotyping
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Dermatitis - alopecia - enteritis

13. What are the glucogenic essential amino acids
Fasting
5' of the incoming nucleotide
Met - val - arg his
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

14. Why can't muscle produce in gluconeogenesis
Dermatitis - alopecia - enteritis
Neurofibromatosis type 1 (von Recklinghausens disease)
Lacks glucose 6 phophatase
Antibiotic use or excessive ingestion of raw eggs

15. Type IV collagen
Must be both activated and inactivated for cell cycle to progress
Basement membrane or basal lamina
Males are infertile due to bilateral absence of vas deferens
Glutamate

16. In eukaryotes - What does RNA poly I make
Enhancers
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Initiate chains
RRNA

17. In which structures do you find microtubules
Comlex II
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Flagella - cilia - mitotic spindles
RRNA

18. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Hypoglycemia
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

19. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Glycogen and FFA oxidation; glucose conserved for final sprinting
Neimann - pick - sphingomyelinase - sphingomyelin - AR
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
SNP

20. What enzyme does fructose metabolism bypass to reach glycolysis
Inc melt - dec fluidity
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
B-100 - CII and E
PFK - rate limiting enzyme

21. What components come together to make S- adenosyl methionine
SAM
Degredation of dietary TG in small intestine
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
ATP and methionine

22. what happens in acyl coa dehyrdogenase def
Met - val - arg his
Inc dicarboxylic acids - dec in glucose and ketones
Asp and Glu
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

23. What is NAD+ generally used for
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
Catabolic processes to carry reducing equivalents away as NADH
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Dopa decarboxylase

24. What are the functinos of vitamin A
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
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

25. Why is G6PD def more common among patients of african decent
Protective against malaria
Stored ATP - creatine phosphate - anaerobic glycolysis
B6
Glycogen and FFA oxidation; glucose conserved for final sprinting

26. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
P2 +2pq+ = 1
30 - glycerol -3- phosphate shuttle
4 under the floor
SnRNPs

27. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
High output cardiac failure - dilated cardiomyopathy - edema
Marasmus - muscle wasting
Read from a fixed starting point as a continuous sequence of bases
No - its non homologous

28. What is the TX for hyper ammonemia
F16BP
Proton gradient
Alpha 1 -4 glucosidase
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

29. What does the golgi apparatus do on asparagine
Modifies N- oligosaccharides
Degradation of TG stored in adipocytes
Transfers methyl units
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

30. Where is vit B12 found
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Neural tube
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
PCR - denaturation - annealing - elongation

31. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Carbomoyl phosphate synthetase I
NADPH
OTC has hyperammonemia - orotic aciduira does not
Achondroplasia

32. What induces pyruvate kinase
2 rings
F16BP
SAM
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

33. Type II collagen
By inhibiting formation of the initiation complex and cause misreading of mRNA
Cartilage - hyaline - vitreous body - nucleus pulposus
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
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

34. What is the active form of vit D
Von gierkes - glucose 6 phosphatase
1 -25 OH2 D3 = calcitriol
Cytosol
Collagen

35. What is the structure of elastin
Pseudomonas and s aureus
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Tropoelastin with fibrillin scafolding
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

36. Which direction does dynein go
Inc Cl - in sweat
Post to neg
LCAT (lecithin cholesterol acyltransferase)
TTP

37. What does apoB100 do
Binds to LDL receptor - mediates VLDL secretion
Phenytoin - MTX - and sulfonamides
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Cri du chat

38. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
THFs
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Lysine and leucine
Unmethylated - newly synthesized - HNPCC

39. What is mosaicism and give an example
Kwashiorkor - small child with swollen belly
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
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

40. How do cardia glycosides work
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Protein kinase A
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
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

41. What is the longest time of RNA and shortest
MRNA - tRNA
Dermatitis - glossitis - and diarrhea
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Inc dicarboxylic acids - dec in glucose and ketones

42. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Y shaped region along the DNA template where leading nad lagging strands are synthesized
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Specific glycosylases - AP endonuclease
Glycogenolysis to form glucose

43. What is the results of vit B1 def
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Reads usual codon but inserts wrong AA
Mutated dystrophin gene - less severe - adolescence
Microtubules

44. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Williams syndrome
Result from phagocytic removal of heinz bodies my macs - G6PD def
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
17 - 17 letters in von Recklinghausen

45. What is the name is fxn of vit B3
HMP shunt
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Niacin - constituent of NAD and NADP - derived from tryptophan
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

46. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Dermatitis - enteritis - alopecia - adrenal insuff
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Disease
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

47. When does aspartate enter the urea cycle
Biotin
Von gierkes - glucose 6 phosphatase
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
After citruline

48. How does patients present with ADPKD
Methionine encode by only 1 codon (AUG)
Flank pain - hematuria - HTN - progressive renal failure
Nissl body - enzyme and NTs
PFK - rate limiting enzyme

49. What substances induce phosphofructokinase
IMP precursor
Night blindness - dry skin
AMP - fructose 2 -6 BP
Degredation of dietary TG in small intestine

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

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