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8/12/2019 Workbook! Yes.

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Lysine, Arginine

Glycine, Aspartate, Glutamine

Methionine

Tryptophan

Start Codons

Stop Codons

Origin of Replication

Replication Fork

Helicase

SSBP's

Topoisomerase

Primase

DNA Polymerase III

DNA Polymerase I

DNA Ligase

Telomerase

RNA Polymerase I

RNA Polymerase II

RNA Polymerase III

hnRNA-->mRNA

snRNP'sAlternative Splicing

tRNA

Methoinine

Wobble

Protein Synthesis InitiationA site

P Site

E Site

Aminoglycosides

Tetracyclines

Aminoacyl-tRNA synthetase


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Chloramphenicol

Macrolides


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Histones

Needed for Purine synthesis

ONLY coded by AUG (start), aminoacyl tRNA binds directly to Methionine and not via A site

ONLY coded by UGG

AUG (methionine), GUG (valine)

UAA, UGA, UAG-- nonsense codons, thus no anticodon exists for it. Yeielding release factor to terminat

Multiple regions in DNA

prevent re-annealing of strands from helicase

nicks created to relieve super coils, fluroquinolones inhibit DNA gyrase (topoisomerase II)

"landing base" for DNA Polymerase III to "land" to start replication

Prokaryotic only: 5'--> 3' activity, with 3'-->5' proofreading

Prokaryotic Only: degrades RNA primers, replaces with DNA (DOES NOT LIGATE)

Ligates Okazaki fragments and NOW replaced RNA primers with DNA sequences to make a continuous

Adds excess material to each 3' end to prevent genetic material loss with each replication

makes rRNA (rampant)

makes mRNA (massive), opens DNA at promoter site. Inhibited by the amanitin toxin in mushrooms (th

makes tRNA (tiny)

occurs in the nucleus via "processing". Processing involves: 3' Poly A tail, 5' cap (200 AA's) and splicing

snRNP's are respponsible to intron splicing via: combining with hnRNA to make lariats of introns to reWhen snRNP's yield exons and those exons are combined in unique combos to yield equally unique pr

the AA's bind to the 3' end of the tRNA which has CCA stickied to it to sticky-covalent bind to an AA. (C

tRNA's 3' end-->CCA--> Methionine

This refers to a tRNA. A tRNA really only needs to have the first nucleotide positions to make a match

to code for an AA. Thus, EVEN if the third nucleotide position varies from what it should ideally be, it

IF's (energy from GTP hydrolysis) assemble the 40s subunit with the initiator tRNA (Met) and goes awaAminoacyl-tRNA binds here-- except for Met which has already been there. It's the site that will contin

Proliferating site which allows the peptide to grow via trasferring AA to A site via catalyzing peptide bo

Holds empty tRNA (no more AA attached to it now) till it can get naturally bumped out by the 40/60 su

binds to 30s, thus initation complex for mRNA never forms and yields a total misreading of the mRNA (

binds to 30s, and blocks aminoacyl tRNA from ever getting into the A site, thus how the hell do you get

this enzyme is responsible for "matchmaking the tRNA to an AA. As a matchmaker it's job is to make

sure that the match is accurate, and properly bound. If it's not accurate it will hydrolyze the bond


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binds to 50's, thus P site's peptidyl transferase is blocked (chloramPhenicol is a P site Pig)

binds to 50's, preventing the release of uncharged tRNA after its donated its AA. Thus, like an overstay


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e/let go

strand

us inhibited mRNA production). Which yields hepatotixicity.

f introns.

ove. snRNP's AB's are in lupus (thus anti snRNP AB's are in the nucleus)teins once the mRNA is translated. (Seen in the various SUBTYPES of beta thalasemmia mutatio

A= Can carry Amino's)

when the 60's comes in along with the mRNA.e to grow and grow

d formation.

bunit moving along the 5'-->3'

because where do you start if no Met to tell you where the start is?!)

a chain to grow if the space is blocked off?!


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d guest, no one else can come in. Everything has to be stagnant and further synthesis cant occu


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s)


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.


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M phase

G1/G0

Cell Cycle

CDK

Cyclin

Cyclin-CDK

Tumor Suppressors

G0

G1-->G0

G1

RER

Nissl Bodies

Free ribosomes

SER

Serine, threonine

Endosome

M6P

I-Cell disease

COPI

COPII

Clathrin

Peroxisome

Proteosome

Microtubule

Dynein

KinesinChediak-Higashi

Mebendazole/Thiabendazole

Griseofulvin

Vincristine/Vinblastine

Paclitaxel

Colchicine


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Cilia

Kartnagers

Vimentin

Desmin

Cytokeratin

GFAP

NaKATP-ase

Oubain

Digoxin, Digitoxin (cardiac glycosides)

Type I Collagen

Type II Collagen

Type III Collagen

Type IV Collagen

Collagen Synthesis

OI

ED

Alport

Elastin

Marfans:Emphysema

Old age wrinkles


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shortest phase, consists of Prophase, Metaphase, Anaphase, Telophase

Interphase parts.Variable length. Depends on the cell type and what it needs.

Interphase (G1, S, G2), Mitosis (Prophase, Metaphase, Anaphase, Telophase)

Needed for the cell cycle to be regulated. It's inactive, and can only be activated and put to use by Cycl

Regulatory protein that is responsible for activating/inactivating CDK, thus ultimately controlling the ce

The on/off relationship these two have is what will allow the cell cycle to progress properly WITHOUT

B/w G1 and S phase is Rb and p53. If Rb is hypophosphorylated and p53 is there (I assume activated?)

Permanent cells-- stay in G0 for everrrr: stem cell regeneration--> Neurons, skeletal/cardiac MM, RBC'

Stable cells that come out of G0 only if damaged. Hepatocytes and lymphocytes

Labile cells, never ever enter G0 because they are always rapidly dividing. This would be any cell that c

makes endo/exo [H], and adds N-linked oligo saccharides to proteins. (goblet cells and AB plasma cells

RER equivalent but in the neurons (because neurologists are so neurotic and egotistic of course they h

Free floating. Never gonna go anywhere in life since its not grounded. Thus, all the proteins it makes is

Steroid synth, and Rx/poison detox. This is the big leagues boy; you deal with streoids and drugs here.

gets O-oligosacch added in golgi

Golgi sends stuff here so it can either be recycled or destroyed in the lysosome.

golgi "tags" proteins to go to lysosomes to be destroyed muaaaaahaha

When M6P is never added, so things don't get digested. Sx: coarse face, cloudy corneas, restricted

joints, and high lysosomal plasma levels (because its not being used!). Basically all these Sx make

retrograde golgi-->golgi/ER

anterograde ER/golgi-->golgi

golgi--> lysosome, PM--> endosome

catabolizes very long chain fatty acids and amino acids

Barrel shaped, ubiqutin degredation

alpha, beta tubulins in flagella, cilia and mitotic spindles. Seen in slow axoplasmitc neuron transport.

transports cell baggage WITHIN the microtubule retrograde (- --> +)

transports cell baggage within the microtubule anterograde ( + --> -)LYST mutationis mictrotubular dysfunction that yields pyogenic infections, partial albino, and peripher

Rx for helminths that acts on microtubules

Rx for skin fungus that acts on microtubules

Rx for cancer that acts on microtubules

Rx for breast cancer that acts on microtubules

Rx for gout that acts on microtubules.


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9+2 bundles (9 in periphery and 2 in the center) anchored to periphery by dynein arms so it can bend,

dynein arms are messed up in cilia so Sx: male infertility, bronchiectasis, recurrent sinus infections and

CTD

MM

Epithelial Cells

Brain (neuroGlia)

3 Na in, 2 K out.

inhibits pump via binding to K site

Inhibits pump directly. Thus, decreased Na, will INCREASE Ca thus increase heart contractility

Most common! Bone, Skin, Tendon: OI because of collagen glycosylation issues

Cartildge

Reticulin: ED because of collagen cross linking issues

BM: Alport

Synthesis in RER (Gly-Pro-Lys), Hydroxylation of Pro (needs Vc), Glycosylation (yields 3x helix with H an

Type I collagen issues, Sx: fractures, blue sclera, hearing loss because middle ear bones are abnormal a

Sx: joint dislocation, berry aneurysms and organ rupture. Type I, V most often implicated

Type IV issue, Xr, Sx: progressive hereditary deafness and nephritis, eye issues too!

Rich in Pro and Gly. Broken down by Elastase if a1AT is not inhibiting it

fibrillin defectno a1AT thus EXCESS elastase activity.

reduced collagen and elastin production


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ns (CDK= puppet)

ll cycle events (Cyclins = Puppet Master)

ver synethesizing stuff (like in cancer), or undersynthesizing stuff.

hen there is NO G1-->S progression. If there are mutations in either, then cancer occurs

emo affects (hair, skin, nails, GI lining, BM, germ cells)

)

ve to give it a separate name...). Makes ChAT and NT's

only for within the cell and will never be exported (cystolic and organellar proteins)

o kiddie issues. (Liver and adrenal cortex because they make steroids)

l neuropathy


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nd in the periphery so it can sliiiiiiiiiiide

situs inversus

S2 bonds), Exocytosis from fibroblasts, Proteolytic Processing (cleaved S2's) , Cross linking (stre

d no dentin yields dental issues


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gth and stability)


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Southern Blot

Northern Blot

Western Blot

Southwestern Blot

PCR

Microarrays

Direct Elisa

Indirect Elisa

FISH

Cloning


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DNA sample is exposed to DNA probe that anneals to the complementary strand= dsDNA yielded

RNA sample is utilized = measure mRNA level

AB is used to bind to protein = PRO

oligonuclueotide probes = ID DNA binding PRO

multiple a specific sequence of interest

used for SNP ID

uses an AB to bind to sample's AG

uses an AG to bind to a sample's AB

bind to gene site of interest on X

mRNA of interest is exposed to reverse transcriptase --> cDNA produced. cDNA is inserted in plasmids


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ith AB resistance


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Variabe expressivity

Incomplete Penetrance

Imprinting

Heteroplasmy

Pleiotropy

Locus Heterogenity

Loss of Heterozygosity

Dominant Negative Mutation

Linkage disequilibrium

Uniparental Disomy

Heterodisomy

Isodisomy

Homozygosity

Heterozygosity = AR

Heterozygosity = XR

AD

AR

XR

XD

mt

AD diseases

FAP

Familial cholesterol IIA

Osler Weber Rendu

Hereditary Spherocytosis

Huntington's

Marfans

Tuberous sclerosis

VHL

AR diseases

CF


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XR diseases

Duchenne

Becker's

Fragile X

Triple Expansion

HD

Freidrich's

Myotonic Dystrophy

Fragile X

Trisomies

Downs

edwards

patau


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Patients with same genotype have varying levelsof intensity of phenotype (NF1 sx can be super mind,

Just because you have the genotype doesn't mean you'll have the disease at all(BRCA1= not always B/

inherited genes manifest differnently depending on if maternal or paternal origin (Prader-Willi/Angelm

normal ANDabnormal mt is inherited yielding varying degrees of mt disturbances

One gene yields differentphenotypes (PKU gene = retard, skin and smell)

Different genes yield the SAMEphenotype (Marfans, MEN 2B, homocystinurua = Marfinoid Habbitus)

Rb/Two Hit hypothesis with tumor suppressor genes (NOToncgenes)

a heterozygote creates a new protein that is loud and obnoxious and prevents the regular protein fro

certain traits always get inherited together because either they are too close on the locus, BUT CAN A

2 chromosome copies from one parent (hydratiform mole). Consider this as Dx if a recessive order is m

Meiosis I error

Meiosis II error

frequency of homo for either allele p/q =p^2, or q^2

2pq

q= males, q^2= females

FmHx VIP-- structural issue

only seen in one generation-- enzyme issue

females are carriers, more severe in males. NO male to male transmission

ALL female offspring of AFFECTED male's will HAVE IT. (Seen in Vd resistant rickets because of phosph

all affected female kidshave some LEVELof symtpoms. Won't be transmitted when an affected father

structural

will progress to colon cancer

severe heart disease early in life, xanthomas on tendons

AVM and spider veins and lots of nose bleeds-- blood vessel disorder

Spectrin, ankyrin defect = high MCHC. Tx = splenectomy

decreased ACHA/GABA

pectus excavatum, arachnodactyly, floppy mitraval valve and lens subluxation

incomplete penetrance, variable presentation

bilateral RCC, AND hemangioblastomas of retina/cerebellum/medulla

enzymatic: albino, arpkd, CF, GLG storage issues, hemachromatosis, mucopolysach (not hunters), PKU,

deletion off Phenylalanine, abnormal protein folding yields degredation of the channel before it

reaches the surface of cell. High suceptibility to Pseudomonas and S. aureus infections. Sx:infertility


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females are carriers, more severe in males. NO male to male transmission: Bruton's, Wiskott Aldrich,

Fabry's, G6PD, Ocular Albinism, Lesh Nyhan, Duchenne(Beckers), Hunter's, Hemophilias, Ornithine

frame shift . Biggest gene thus high to disease mutations. Dx= elevaed CPK in MM bX

mutated dystrophin. Less severe than Duchenne. Dx= elevated CPK in MM Bx

methylation issue. Sx= big balls, ears and jaw (will smith?)

ANTICIPATION! Huntington's, Fragile X, Fredrich's, Myotonic Dystrophy (TRY HUNTING for MY FRIED E

CAG

GAA

CTG

CGG

because of unbalanced robertsonian translocations. Unless down's. more OFTEN because of meiotic n

low afp, high bhcg, low estriol, high inhibit. Nucal translucency

low afp, low bchg, low estriol, normal inhibin

low pappa, high nucal translucency


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GGS)

ndisjuntion

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