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Biochemistry

Instructions:

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. trinucleotide repeat fo myotonic dystrophy
Microtubules
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
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
CTG

2. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
FMR1 gene - methylation - associated with chromosomal breakage
Oxidizes substrate
Glycine
Promotor - TATA box - and CAAT box - AT rich

3. What is the activated carrier for electrons
NADH - NADPH - FADH2
Phenylalanine hydroxylase
Only processed RNA
NAD+

4. What is trimming
1 kind with multiple subunits
B6
Enhancers
Removal of N or C termal propeptides from zymogens to generate mature proteins

5. Where is glucose 6 phosphatase found and What does it do
In ER - glucose 6- P to glucose
Huntingtons
CAG - 4
SNP

6. What two proteins make up microtubules and how are they arranged
Antibiotic use or excessive ingestion of raw eggs
Alpha and beta tubulin - dimers have two GTP bound
Promotor - TATA box - and CAAT box - AT rich
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

7. What amino acid makes up most of the octamer
Lysine and arginine
Tropoelastin with fibrillin scafolding
Pyruvate - NAD+ - CoA
Antioxidant - protects RBCs and membrances from free radical damage

8. In what cells do the respiratory burst occur
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
PMNs
Inc Cl - in sweat
5' of the incoming nucleotide

9. What does biotin def cause
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Each codon specifies only 1 amino acid
Dermatitis - alopecia - enteritis

10. What does apoA 1 do
Alpha1 antitrypsin
CAG - 4
Activates LCAT
Medial dorsal nucleus of thalamus - mamillary bodies

11. What 3 amino acids are necessary for purine synthesis
Oxalacetate
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
X linked frame shif mutation
Glycine - aspartate - glutamine

12. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Vincritsine/vinblastine
Degredation of TG circulating in chylomicrons and VLDLs
Inc vit B6
Proline and glycine (non glycosylated forms)

13. 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
Alpha - ketoglutarate dehydrogenase complex
Adds an inorganic phosphate onto substrate without using ATP
Cyclin dependent kinases;constitutive and inactive
Williams syndrome

14. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Peroxide
Alanine
Cri du chat
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

15. What is the results of vit B1 def
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Protein
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

16. What is chediak higashi
Liver - also in kidney and gut epithelium
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Base + ribose
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

17. Where is EtOH dehydrogenase located
Cytosol
Oligomycin
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

18. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Neg to pos
Terminal regions - tropocollagen
Glucose - 2Pi - 2ADP - 2NAD+
Liver hepatocytes and steroid producing cells of the adrenal cortex

19. 1 g of protein or cabrohydrate = ?kcal
Mcardle's - skeletal muscle glycogen posphorylase
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Four
Inc Cl - in sweat

20. What two enzymes are involved in EtOH metabolism
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
EtOH dehydrogenase and acetaldehyde dehydrogenase
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
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

21. What are CDKs
Dopamine beta hydroxylase
PFK - rate limiting enzyme
Cyclin dependent kinases;constitutive and inactive
Colchicine

22. What is the hardy weinberg allele prevalence
Neither of 2 alleles is dominant - blood groups
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Exons
P+q = 1

23. What is loss of heterozygosity and give an example
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
3' end (with CCA)

24. FAP is due to deletion On what gene On what chromosome
Locus heterogeneity - ocular albinism is x- linked recessive
Core proteins
APC on chromosome 5
Krabbes - galactocerebrosidase - galactocerebroside - AR

25. What is a nonsense mutation
Ketone - methyl
GAA
Dopamine beta hydroxylase
Change resulting in early stop codon

26. What shape does the RNA generate during splicing and why?
Lariat shape in order and remove intron precisely and join 2 exons
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
Acetyl - CoA carboxylase (ACC)
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

27. What does DNA ligase do
DNA
Anabolic processes as a supply of reducing equivalents
Seals.
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

28. Where is acetaldehyde located
Niacin - constituent of NAD and NADP - derived from tryptophan
Mitochondria
Glucose 6 phosphate dehydrogenase (G6PD)
Palate - facial and cardiac defects

29. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
NAD+
Scrutinizes - hydrolyzes the bond
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Oxidative and nonoxidative - no ATP produced or used

30. What stretch of DNA that alters gene expression by binding of transcription factors
Alpha 1 -4 glucosidase
Mutated dystrophin gene - less severe - adolescence
Enhancers
Oxidized hemoglobin precipiated within RBCs

31. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Alpha - ketoglutarate dehydrogenase complex
Coenzyme A - lipoamide
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

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

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33. What does the mutation in the gene cause in protein synthesis
Prevent strands from reannealing
Pseudomonas and s aureus
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Abnormal protein folding - degradation before reaching cell surface

34. In which state is FBPase -2 active
Only processed RNA
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Fasting

35. What are the fat soluble vitamins and What does their absorption depend on...
Myeloperoxidase
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Scrutinizes - hydrolyzes the bond
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

36. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
EtOH dehydrogenase and acetaldehyde dehydrogenase
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Epithelial cells

37. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Microtubules
DTMP
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

38. What is the energy source in the fed state right after a meal
Tryptophan
Liver hepatocytes and steroid producing cells of the adrenal cortex
Griseofulvin
Glycolysis and aerobic respiration

39. What does a southern blot use as its sample
DNA
Not all individuals with a mutant genotype show the mutant phenotype
Carbomoyl phosphate synthetase I
They yield only acetyl - CoA equivalents

40. What defects characterize velocardiofacial syndrome
Palate - facial and cardiac defects
1 kind with multiple subunits
Blood - bone marrown - amniotic fluid - placental tissue
2 -4 DNP - aspirin

41. What two amino acids are required druing periods of growth and why
Superoxide dismutase
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Arg and his inc in histones Which bind negatively charged DNA
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

42. What is incomplete penetrence and give an example
IDL
Glycogenolysis to form glucose
Acetyl - CoA
Not all individuals with a mutant genotype show the mutant phenotype

43. characterize x linked recessive
Exercise: inc NAD/NADH - inc ADP - inc Ca
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Alanine
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

44. What do B- complex vitamin deficiencies often result in
Dermatitis - glossitis - and diarrhea
Pseudomonas and s aureus
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

45. What are the two possible causes of albinism
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Proline and glycine (non glycosylated forms)
Wrinkles and acne

46. What is DNA cloning and How do you do it?
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Liver - also in kidney and gut epithelium
Comlex II

47. Where do you find elastin and What does it do
They yield only acetyl - CoA equivalents
Protein kinase A
Oxidizes substrate
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

48. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
25OHD3
Marfans
Changed AA (convservative - new AA is similar in chemical structure)
GTP

49. Type I bone
1 ring
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
BOne
N to C

50. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Von gierkes - glucose 6 phosphatase
CAG - 4
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Biotin