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95 Cards in this Set
- Front
- Back
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what represses the lac operon when there is glucose in it...
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lactase can bind the repressor but glucose decreased AC and decreases cAMP (high cAMP pushes)
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CAAT and TATA
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trascription initaiators at 75 and 25 upstreak
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histones rich in...
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lysine and arginine
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thyamine has a...
guanine has a .... deamination of cytosine makes... |
methy
ketone uracil |
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what AA needed to make purines...vs needed to make pyrimidines
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GLYCINE unqiue to purines...aspartate and glutamine for both
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mycophenylate will inhibit what part of purine synth...
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IMP dehyrodenase...increaseing IMP and decreasing GMP
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inability to convert orotic acid to UMP (need additon of PPRP)...and must give uridine as treatment
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orotic aciduria... not OTC deficincy because no hyperammonia, but no correct mega
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ATP and dATP feedback and inhibit ribonucleotide deaminase due to buildup of A's and decrease in inosine...
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ADA def causing scid
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problem in the conversion of hypoxanthine to IMP and guanine to GMP
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HGPRT deficiny in Lesh Nyhan
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exception to degeneracy of genetic code...
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methinone only has one codon
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exception to nonoverlapping, fixed starting point geneic code
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viruses
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exceptions to the universal genetic code...
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mitochorial DNA, archaebacteria, mycoplasma, and yeasts
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transition vs transVersion mutation...
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purine to purine vs pyrimidine to purine
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primase is removed by______ and expanded by_____... and is what type of creater
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removed by DNA I exonuclease...expanded by DNAIII and its a reverse transcriptase
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where are ribosomes made...
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in the nucleolous
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mismatch repair problems...
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HNPCC and BRACA1 and 2
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what works in base excision repair...
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glycosylases recognize damaged bases and AP endonucleases at apyrimdine sites
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ATM gene mutation with immune deficincy, poor smooth pursuit with eyes, difficulty ataxia, and multi telengectasia
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ataxia telangestasia
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Rampant, Massive, Tiny
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rRNA must abundant
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rRNA16 on the 30s subunit functions...
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to initiate
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enhancers and repressors bind with what and control what...
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bound by DNA bind domains and control RATE
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promoter mutation causes...
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dramatic decrease in amount of gene transcription
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where are the 3 RNAs made and what r they made by...
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rRNA- rna poly 1...nucleolous
mRNA-rnas poly 2...nucleoplasm trna-rna poly 3...nucleoplasm snRNP are made by RNA poly 2 |
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alpha-amanitin inhibits which rna polymerase...
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RNA poly II which decreases synth of mRNA and snRNP causing LIVER failure
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antibodies against snRNP are seen in which disease...
(rememebr GU and AG are the introns) |
LUPUS
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alternative splicing combining exons is seen in which disease...
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B-thalaseemia
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what is the only mRNA processing that happens outside the nucleous...
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methylation of the guanine triphose by SAM
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where does aminoacyl-tRNA synthatase work...
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at the 3' end where there is a CCA
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what is the energy for protein synth and what is the enrgy for tRNA charging...
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GTP and ATP
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what is released when mRNA and ribosomal subuntis assemble...
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GTP and eIF from 40s
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ribozyme is the same as peptidyl transferase onto the A site... where does this occur
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23s unit of the 50s
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aminoglycosides block...
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formation of the initiation complex and cause misreading of mRNA
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chloramphnicol and streptogramins inhib...
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50s peptidyltransferase
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macrolides and clindamycin block
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translocation on 50s
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what takes mRNA from the cyto to the ER...
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SRP...signal regognition particles which allow proteins destined for secretion to get to the ER
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nuclear localization signal often have which AA...
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lysine, Arg, proline and use ATPase to get inside
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labile cells stay in which phase...
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never go to G0
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goblet cells and plasma cells and neurons are full of...
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RER (neurons with ChAT)
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free ribosomes make...
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cytosolic and oranellar proteins
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cells full of golgi are...
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liver hepatocytes in EtOH and adrenal cortex
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cyclin B works with cdk1 to break down...
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nucelar lamina
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cyclin d works with cdk 4 to...
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phosphorylate Rb which activates EF
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golgi modifies which 3 amino acids...
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serine, thionine, asparginine (N-asp) (O-serine and thionine)
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I cell disease is dysfunction of......look for lysosomeal proteins in serum (glycosylase and hydroxylase)
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golgi not adding M-6-P to the lysosomal proteins
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sulfonation of sugars on proteoglycans and some tyrosines occur in...same place as proteoglycan assembly from core proteins
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golgi
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COP1, COP2, clathrin...
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COP1-retro
COP2-forward clathrin- endocytosis and transgolgi to lysosome |
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slowly growing, fast collapsing dimers bound to two GTP which are worked on by mebendazole...cause what disease if theres failure to polymerize
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chidiak higashi
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partial albinism, recurrent pyogenic, and peripheral neuropathy...
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failure of phagocytosis in chidak higashi
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what allows cilia to move together and what attaches the out outter 9...
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gap juntions and ATPase links them
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what decreases the fluidity and increases melting temps of plasma membrane
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high cholestrol and long staturated FA
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ouabain inhibits what process critical to life...
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Na/K by binding to K binding site
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skin, dentin, fascia, cornea..
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type 1
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hyaline cartilage, vitreous humor, nucelous pulposus...
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slippery type 2
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skin, blood vessels UTEROUS, fetal tissue, granulation tissue...
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bloody fetus...type 3
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glycosylation of what residues cause triple helix formation and procollagen formation...
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lysine glycosylation
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what allows formation of tropocollagen and then full collagen
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cleavage of soluable terminals and then covalent linkage of lysine OH with lysine by lysine oxidase
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most common type of collegen messed up in ehler danlos
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3
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hearing loss and denal imperfections owing to problems with dentin...
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OI type 1... type 2 is fatal in utero
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seen in vocal chords and ligamenta flava... differs from collagen because its rish in proline and glycine (no lycine) and not glycosylated
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elastin...tropoelastin with fibrillin scaffolding
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elastin differs from collagen in that it is...
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no lysine, but rich in nonglycosylated glycine and proline
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technique used when needing to find single nucleotide polymorphisms.. (relations of bacteria)
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microassays
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used to detect microdeletions... no flourence seen?
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FISH
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manupulation of genes at specific times in the developmental cycle using an antibiotic controled promoter...
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cre-lox system
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variable expression
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NF1 and tub scelrosis
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pleotriphy show...
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PKU...many systems
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this is not seen in oncogene mutations...
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loss of heterozygosity (Rb gene IN osteosarcoma)
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lyonization...random inactivation of X in females...
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somatic mosaicism...risk is seen in ratio of mutated to nonmutated
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two children have inherited disease but neither parent has the disase and there is no family hx...
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germ line mosesim owing to new mutation...
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in mitochonrial disease (muscle/ragged reg) and (eye), there is variable expression owing to the number of nutated vs no mutated mito in the person...
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heteroplasmy
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compete mole and possible Prader willi or Angelman...
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uniparental disomy
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locus heterogenicity...
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different genes, similar phenotye (marfans, homocystein, men2b)
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allelic heterogenticy...
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different mutations at same gene produce similar pheno...Duchennes and beckers
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pheonotypic hetero....
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different phenotypes but same gene mutation
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in an X linked disease... what is the prevolence of the diease in males vs females...
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males=q
females=qq |
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choromosome 15 deletions in the mother of father owing to mehtylation from SAM defects...
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imprinting (ian hawtree and emily dindile)
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x linked dominate diseases...
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retts and hypophophatemix rickets which casued by wasting of phos and ricket like symptoms
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acute loss of central vision due to degeneration of retinal ganglion cells is a mitochonrial disease...
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heteroplasmy
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blood vessel disorder...shows telegectasia, recurrent epistaxis, skin discoloration, AVM...
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osler wber randue...hereditary telangestasia
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juvenille catarats and the 2 acoustic neuromas
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NF2 (22)
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mutation causes increase in HIF causing increased angiogenic properties... increased hemangioblastomas everywhere
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VHL
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weird AR diseases
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albinism, glycogen storage, homochromatosis, PKU, thalamesmia, pyruvate kinase
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greater than 60mEL/L of cl in sweat
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CF cutoff
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weird x linked recessive...
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immuno def, muscular dystophies, OCULAR albinism, lesch hyhan and hemophilia...FMR METHYLATION DISEASE
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frame shift mutation vs point mutation causing increase CPK....longest gene thats function is to anchor...
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cardiomyopathy in duchennes MD (onset 5 years or 13 years)
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chomosomal breakage owing to methylation of the FMR1 gene which increased mRNA in axons and dendrites of the brain and testes
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fragile x (poor eye conact, autism, MP and chewing hands and flapping)
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cTg repeat
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myotonic dystophy... bald and blind
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cGG repeat...
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GIANT everything with FMR dendriates and axon in testes and brain
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GAA repaeat
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the GAAY frat guy is fredrichs ataxia
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65 percent of these have plycythemia at birth...
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downs
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pannel for trisomy 21 vs 18
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21- decrease AFP, estriol
increase inhibin bHCG 18-decrease AFP,estroil and bCH |
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clenched hands, small jaw, prominant occiput vs cleft palate polydactaly and poloprosen
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18 vs 13
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first splits the non-similar, then splits the identical...therefore a late nondisjunction...
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two of the similar...early nondiscuntion causes two of the nonsimilar
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microdeletion of chrom 5 with weird cry...
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cru-du-chat 5
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long arm 7 deletion with loss of elastin gene...shows friendly, elf, sensitive to vitd with hyperCa
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williams 7
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cleft palate, facial and cardiac defects... often T...truncus arteriosis and tertology of F
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22q11 owing to poor 3 and 4 pouch (endoderm)
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