Biochemistry HY

eesohbel's version from 2015-07-06 00:05

Section 1

Question Answer
methylation turns it off
acetylation turns it on
inhibits IMP dehydrogenasemycophenlate and ribavirin
inhibits ribonucleotide reductasehydroxyurea
inhibits de novo purine synthesis 6-MP and azathiopurine
inhibits dyhydrofolate reductase methotrexate and trimethoprim
prevents DNA synthesis and thus decreases lymphocyte count SCID via adenosine deaminase deficiency
role of glucose and CAMP in lac operon main mechanism of glucose induced inhibition of lac operon is depletion of CAMP
defective in xeroderma pigmentosum nucleotide excision repair (occurs in G1 phase of the cell cycle)
defective in HNPCCmismatch repair (occurs in G2 phase of the cell cycle)
defective in ataxia telangiectasia and Fanconi anemiasensitive to radiation
alpha amantin inhibits RNA polymerase II (which makes mRNA)
special about RNA polymerase I makes rRNA in the nucleolus
elongation of protein synthesis think of going APE A=incoming aminoacyl-tRNA P=accomodates growing peptide E=holds Empty tRNA as it Exits
I-cell disease failure of golgi to phosphorylate mannose reisdues on glyocoproteins. proteins are secreted extracellulary rather than delievered to lysosomes.
vimentinconnective tissue
desMin Muscle
cytokeratin Epithelial cells
neurofilaments neuron
dynein retrograde to microtubule
kinesin anterograde to microtubule
First test for HIV ELISA
confirmatory ttest for HIV after positive ELISAwestern blot

Quick HY diseases

Question Answer
hyperphagia, obesity, intellectual disability, hypogonadism and hypotonia Prader Willi (paternal gene is deleted)
happy puppet Angelman (maternal gene is deleted)
mutation on chromosome 15Prader Willi or Angelman
ADPKD chromosome16
FAP chromosme5
telangiectasias, recurrent epistaxis, skin discolorations, AVM, GI bleeding, hematuriaOsler-Weber Rendu
multiple malignancies at an early ageLi-Fraumeni
NF1characterized by cafe-au-lait spots, cutaneous neurofibromas, optic gliomas, pheos, lisch nodules.
Tuberous sclerosisnumerous benign hamartomas
n-acetylcysteinecystic fibrosis
x-linked recessive disordersOblivious Female Will Giver Her Boys Her X-Linked Disorder (Ocular albinism, Fabry, Wiskott-Aldrich, G6PD, Hunter, Brutton, Hemophillia, Lesch Nyhan, Duchenne)
Duchenne what type of mutationframeshift
Duchenne weakness beginspelvic girdle muscles and progresses superiorly
Common cause of death in Duchennedilated cardiomyopathy
post-pubertal macroochidism, long face with a large jaw, large everted ears, autism, MVPfragile X
repeat of Freidrich ataxiaGAA
repeating of Hunington'sCAG
myotonic repeatCTG
repeat fragile XCGC

High Yield Vitamins

Question Answer
thiamine cofactors for what reactionspyruvate dehydrogenase (links glycolysis to TCA cycle), alpha ketoglutarate dehydrogenase (TCA cycle)
vitamin that should be supplemented if taking isonazidB6
degeneration of dorsal columns, lateral corticospinal tracts and spinocerebellar tractsB12 deficiency
necessary for hydroxylation of proline and lysine in collagen synthesisvitamin C
necessary for dopamine B-hydroxylase, which converts dopamine to NEvitamin C
infants should receivevitamin D and vitamin K
neurologic presentation may appear similar to B12, but without megaloblastic anemiavitamin E
Vitamin K and clotting factorsnecessary for the maturation of clotting factors II, VII, IX, X and proteins C and S
Kwashiorkorprotein malnutrition
marasmustotal calorie malnutrition


Question Answer
increased NADH/NAD ratioethanol metabolism
disulframinhibits acetaldehyde dehydrogenase leads to build up of acetaldehyde
disulfram like reactionsmetro, some cephalosporins, procarbazine, sulfonyureas