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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 is anticipation and give an example
O- oligosaccharaides
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Neurons

2. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
BOne
Polycystic liver disease - berry aneurysm - mitral valve prolapse
FAP

3. What does hartnups disease cause
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
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
APKD1 on chromosome 16
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

4. What does the ELISA test for
Removal of N or C termal propeptides from zymogens to generate mature proteins
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

5. What occurs to oxaloacetate in starvation and DKA
Phenylalanine hydroxylase
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

6. What induces pyruvate kinase
F16BP
B100 and E
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Autosomal recessive diseases

7. What does helicase do
SAM
CGG
Unwinds DNA template at replcation fork
Fibrofatty replacement of muscle - cardiac myopathy

8. what gene is implicated in fragile X syndrome - and What is the mutation
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
FMR1 gene - methylation - associated with chromosomal breakage
Robertsonian translocation and mosaicism
LDL

9. What does beta oxidation do and Where does it occur
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Mucus secreting globlet cells and antibody secreting plasma cells
Breaks down acyl - coa to acetyl coa groups in mito
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

10. What does a phosphatase do
Euchromatin
Base + ribose
Removes phosphate group from substrate
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

11. What makes up a nucleoside
Alpha1 antitrypsin
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Assistance of upper extremities to stand up
Base + ribose

12. What step of uric acid synthesis does xanthine oxidase catalyze
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Hypoxanthine to xanthing and xanthine to uric acid
Glycine
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

13. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Post to neg
Anabolic processes as a supply of reducing equivalents
Citrate - acetyl coa from mito to cyto
Read from a fixed starting point as a continuous sequence of bases

14. what happens in acyl coa dehyrdogenase def
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Inc dicarboxylic acids - dec in glucose and ketones
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Connective tissue

15. Which aspect of the spliceosome do patients with lupus make antibodies against
Mebendazole/thiabendazole
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Niacin - constituent of NAD and NADP - derived from tryptophan
SnRNPs

16. What catacholamine step is SAM required for
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
X- linked recessive
Huntingtons
Conversion of NE to epi

17. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Poly A polymerase - signal is AAUAA
Infection - free radicals generated by inflammatory response
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
High output cardiac failure - dilated cardiomyopathy - edema

18. What is the longest time of RNA and shortest
Lysine and arginine
MRNA - tRNA
PFK - rate limiting enzyme
Carbomoyl phosphate synthetase II

19. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Hypoxanthine to xanthing and xanthine to uric acid
PCR - denaturation - annealing - elongation
High output cardiac failure - dilated cardiomyopathy - edema
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

20. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Biotin
Cre - lox system
Microtubules

21. What is Gowers maneuver
Leu - lys
Assistance of upper extremities to stand up
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Males are infertile due to bilateral absence of vas deferens

22. What feedback inhibits hexokinase
Seals.
Glucose -6 phosphate
Fibrofatty replacement of muscle - cardiac myopathy
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

23. Why is albinism inheritnace varialbe due to...
Locus heterogeneity - ocular albinism is x- linked recessive
2 rings
Vincritsine/vinblastine
P2 +2pq+ = 1

24. What is the rate limiting enzyme in cholesterol synthesis
NADH - NADPH - FADH2
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
HMG- CoA (HMG- CoA to mevalonate
Adds an inorganic phosphate onto substrate without using ATP

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

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26. What does vit B3 def result in
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
LDL
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Oxidative and nonoxidative - no ATP produced or used

27. What is the amino acid precursor for histamine
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
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
ATP - citrate
Histidine

28. What is the defectin IV - hypertriglyceridemia
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
OTC has hyperammonemia - orotic aciduira does not
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

29. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

30. What is the activated carrier for methyl groups
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
SAM
Leu - lys
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

31. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
Antibiotic use or excessive ingestion of raw eggs
Asp and Glu
CAG - 4
B100

32. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Dermatitis - alopecia - enteritis
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

33. recurrent pulmonary infxns in CF are due to what organisms
Autosomal recessive diseases
Initiate chains
B48 - AIV - CII - E
Pseudomonas and s aureus

34. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Inc glucagon - inc cAMP - inc PKA
IDL
Keep glutathione reduced so it can detoxify free radicals and peroxides
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

35. What does acetyl - CoA become before becoming palmitate
Type II
Von hippel lindau - 3
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
LCAT (lecithin cholesterol acyltransferase)

36. What does vit E def cause
Schilling test
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Cleft palate - cardiac abnl - pregs test

37. What are pyrimidines made from
Silencers
They yield only acetyl - CoA equivalents
Orotate precursor - with PRPP added later
ATP hyrdolysis couple to energetically unfavorable rxns

38. What does apoE do
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Mediates extra remnant take up
Assistance of upper extremities to stand up

39. What substances are uncouling agents
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Unwinds DNA template at replcation fork
5' of the incoming nucleotide
2 -4 DNP - aspirin

40. What does an umabiguous genetic code refer to...
Essential fructosuria - fructokinase AR
Each codon specifies only 1 amino acid
75 to 90 - cloverleaf
Unwinds DNA template at replcation fork

41. What does vit C def cause
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

42. What is the prevalence of an X- linked recessive disease in males and in females
P2 +2pq+ = 1
Q -
Silencers
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

43. What are the glucogenic/ketogenic amino acids
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Ile - phe - thr - trp
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Collagen

44. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
FISH
Removal of N or C termal propeptides from zymogens to generate mature proteins
Tuberous sclerosis
Thymic - parathyroid and cardiac

45. What does primase do
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Nonsense > missense > silent
Makes RNA primer on which DNA poly III can initiate replication
Inc glucagon - inc cAMP - inc PKA

46. Type I bone
BOne
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Degradation of TG stored in adipocytes
Antioxidant - protects RBCs and membrances from free radical damage

47. What is the Name and fxn of vit B12
Histidine
Orotate precursor - with PRPP added later
Inhibits the Na/K pump by binding the K side
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

48. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Fibrofatty replacement of muscle - cardiac myopathy
Medial dorsal nucleus of thalamus - mamillary bodies

49. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
Change resulting in early stop codon
Acetly- CoA - CO2 - NADH
Alpha 1 -6 and alpha 1 -4

50. How do you diagnose CFTR
Glutamine PRPP amidotransferase
Grows slowly - collapses quickly
Inc Cl - in sweat
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)