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Biochemistry

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1. What is the breakdown product of NE
VMA
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Result from phagocytic removal of heinz bodies my macs - G6PD def
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

2. What feedback inhibits hexokinase
Base + ribose + phosphate (3' -5') phosphodiester bond
Citrate - acetyl coa from mito to cyto
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Glucose -6 phosphate

3. Name as many x- linked recessive disorders as you can

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4. Where is glucose 6 phosphatase found and What does it do
More than 1 codon may code for the same amino acid
In ER - glucose 6- P to glucose
Removes phosphate group from substrate
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

5. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
FAP
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Fasting
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

6. What are the fetal screening measures for Down
II - VII - IX - X (1972) protein C and S
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
CGG

7. What does vit B3 def result in
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Fructose 1 -6 bisphosphate
ADPKD
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

8. characterize x linked dominant
The triphosphate bond
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Mcardle's - skeletal muscle glycogen posphorylase
Microtubules

9. What are the characteristics of prader willi syndrome How does it occur
SNP
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Zero
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

10. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Glucose 6 phosphate dehydrogenase (G6PD)
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Von hippel lindau - 3

11. Which cells are rich in smooth ER
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Fructose 1 -6 bisphosphate
Liver hepatocytes and steroid producing cells of the adrenal cortex

12. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Marfans
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

13. What are the names and sources of the two types of vit D found in nature
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
ATP and alanine
Fed

14. Where is EtOH dehydrogenase located
Cytosol
Ribos first then deoxyribos with ribonucleotide reductase
The triphosphate bond
Only processed RNA

15. What is the RDE of glycogen synthesis
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Degradation of TG stored in adipocytes
Glycogen synthase
Tryosine hydroxylase

16. What chromosome is the NF gene on...
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
17 - 17 letters in von Recklinghausen

17. What two proteins make up microtubules and how are they arranged
High output cardiac failure - dilated cardiomyopathy - edema
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Alpha and beta tubulin - dimers have two GTP bound
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

18. What amino acid makes up most of the octamer
Lysine and arginine
SAM
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

19. What is the physiologic role of dystrophin
Dopa decarboxylase
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Arg and his inc in histones Which bind negatively charged DNA

20. What does the vimentin stain for
HMG- CoA reductase
Oxalacetate
Connective tissue
III - joint dislocation - anuerysms - organ rupture

21. What substances induce phosphofructokinase
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
AMP - fructose 2 -6 BP
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Core proteins

22. What are the function of vit C
Adds 2 carbon with the help of biotin
Oral uridine administration
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
Adenosine to inosine

23. What is the structure of elastin
Collagen
Tropoelastin with fibrillin scafolding
5' of the incoming nucleotide
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

24. What are the findings in Lesch - Nyhan
Autosomal recessive diseases
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
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Result from phagocytic removal of heinz bodies my macs - G6PD def

25. What does beta oxidation do and Where does it occur
17 - 17 letters in von Recklinghausen
Free ribosomes
Breaks down acyl - coa to acetyl coa groups in mito
Removal of N or C termal propeptides from zymogens to generate mature proteins

26. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Neuralgia
Achondroplasia
Acetoacetate and beta hydroxybutyrate

27. What is mosaicism and give an example
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
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
Not all individuals with a mutant genotype show the mutant phenotype
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

28. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Glycolysis and aerobic respiration
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Sulfation

29. How do aminoglycosides work
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Dermatitis - alopecia - enteritis
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
By inhibiting formation of the initiation complex and cause misreading of mRNA

30. What part of the pre mRNA contains the actual genetic information coding for protein
Base + ribose
Exons
IDL
Abnormal protein folding - degradation before reaching cell surface

31. Which carbon bears the triphosphate and the energy source for bond formation

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32. What are the glucogenic essential amino acids
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Arginine
Orotate precursor - with PRPP added later
Met - val - arg his

33. Where is PEP carboxykinase found - What does it do - and What does it require
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
RER
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Vincritsine/vinblastine

34. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Glucose 6 phosphatase
PCR - denaturation - annealing - elongation
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

35. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Phosphofructokinase 1
GTP
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

36. Milder form of type I with nl blood lactate levels - dz and enzyme

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37. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Consesus sequenec of base pairs
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Unmethylated - newly synthesized - HNPCC
Disease

38. What apolipoprotein is on LDL
HMG- CoA (HMG- CoA to mevalonate
HMG- CoA synthase
Active secretion in lungs and GI - reabsorbs in skin
B100

39. What are uncoupling agents
SAM
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
5' of the incoming nucleotide
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

40. What are pyrimidines made from
Not all individuals with a mutant genotype show the mutant phenotype
Catabolic processes to carry reducing equivalents away as NADH
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Orotate precursor - with PRPP added later

41. nucleotide repeat for fredreich's ataxia
TRNA
Glycogen phosphorylase
Pseudomonas and s aureus
GAA

42. What is anticipation and give an example
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Hyperlipidemia
Dec DNA - dec lymphos leads to SCID
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

43. What makes up a nucleotide

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44. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Microtubules
Elastase - inhibited by alpha1 antitrypsin
B6
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

45. What are the findings in orotic aciduria
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Procollagen - triple helix of 3 alpha collagen chains
HMG- CoA (HMG- CoA to mevalonate
F16BP

46. Describe the replication fork
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
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
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

47. Why can't even chain fatty acids produce new glucose
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Glucose 6 phosphate dehydrogenase (G6PD)
They yield only acetyl - CoA equivalents
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

48. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Silencers
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Comlex II
Oxalacetate

49. 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
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
30 - 50 - 70
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

50. What is the defect in I- hyperchylomicronemia
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
ATP and alanine

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Biochemistry

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