BS Hard-to-Remember updated 

6/9
updated 6/9

 Arrow = SMOOTH ER (SER) = network of 

membranous sacs, vesicles + tubules continuous
with the RER but lacking ribosomes

* enzymes involved in biosynthesis of 

phospholipids, TGs, sterols (e.g. steroid hormones )
ABUNDANT IN CORPUS LUTEUM  active
synthesizers female sex hormones
 ADRENALS (steroid hormone synth)
*detox rxns (glycogen
(glycogen degredation,
gluconeogenesis, lipoprotein particle assembly )
 lots in liver 
MT: 9 doublets + 2 (ciliary axoneme) +2 dynein arms)
RER ("parallel arrays of membrane-
Bound cisternae populated with
multiple electron-dense dots

Cell undergoing mitosis

HETEROCHROMATIN – condensed, tightly
(HETEROCHROMATIN –
wrapped around histones vs.
vs. loosely-packed
transcriptionally active euchromatin)

1. Gene X is on opposite strand  sequence will run in

opposite direction

2. start codon ATP7B is " near

near first exon gene X " 
" 
 5'UTR
5'UTR region ATP7B gene is thus either 
immediately upstream of its translation start codon
or immediately downstream gene X exon 1
st
opposite Gene X 1 intron (see below)

Different receptor types

ARTERIOLlongitudinal
ARTERIOLlongitudinal x-section
A= endothelial cell
intima
B = PMN in vessel
C = basal lamina
underlying
endothelium
D = arteriolar
adventitia
E = smooth muscle
cell  in media (b/c
this section is
 fusiform,
 fusiform, spindle-
longitudinal, the normally " 
shaped" SM cell  appears round BUT
round BUT STILL SHOULD ID THIS EASILY given it's LOCATION b/w  ADVENTITIA INTIMA (e.g. thus = media)
 ADVENTITIA + INTIMA

1
DO GEL READINGS QUICKLY –
QUICKLY  – if given a gel and asked for the complementary sequence look at
the TOP (which is negative side + therefore the end part of the given gene but we want 
complementary so this will be start of that )
that ) + then just switch to complementary NT (eg A T) –
T) –
only do for as much as needed to find answer in choices
immediately look at the last NT in sequence = G
Complementary will start with opposite of this = C so know strand starts C, T (vs. G, A)

MISSENSE mutation = MC MUTATION TYPE 

Large segment deletion – alpha thalassemia

2
BIOCHEM
Chronic arthritis, black urine Alkaptonuria
- Tyrosine

Liver and kidney dz 2/2 AA issue Tyrosinosis

Albinism Tyrosine def.  melanin
Pale hair + ↑r/o melanoma/skin ca
Pale hair + skin, MR, musty smell Phenylketonuria (AR)
 Phenyalaninetyrisone deficient (phenyl enzyme or TB4
coenzyme)

Branched AAs Isoleucine

Leucine
Valine
Maple syrup urine dz –
dz – CNS, MR, death, sugar-smell diaper)
*"I Love Vermont maple syrup"
MR, osteoporosis, marfinoid-habitus, lens subluxation Homocysteinuria
↑↑methionine/
↑↑methionine/↓↓↓↓cysteine
cysteine (cysteine
(cysteine becomes essential AA)
AA)
What RBC changes would you expect in a female who presents with an HEMOLYTIC anemia = 1. G6PD deficiency or 2. PK deficiency
Inherited HEMOLYTIC anemia
inherited hemolytic anemia  If woman,
woman, unless information given to suggest x-linked (and then
receiving 2 “bad” x’s), most likely pyruvate kinase
kinase since this is not sex-
linked (AR)
 NO Heinz (these are in G6PD –
G6PD  – RBC denaturation)
 RIGHT SHIFT in oxygenation curve  – if PK, then glycolytic
intermediates back up  alternate pathway includes 2,3 BPG 
affinity  for O2 (more
(more offloading, LESS pickup - (REMEMBER,
fetal Hgb, HbF has 2,3BPG to allow for affinity/more pickup
from mom)
Heritability familial hypercholesterolemia AD

MOLECULAR + CELL BIO

RER  proteins – protein folding here
secretory/exported proteins –
 N-linked oligosacch addition
 Nissl bodies in neurons  ChAT  enzyme that makes Ach; peptide NTs
 ↑GI goblet cells (mucous secretion), plasma cells (Ab-secretion)

Chaperones Class of specialized proteins that function to assist proper folding newly
synthesized proteins (properGolgiplasma mem etc.)
 If they are dysfunctional + poor folding   protein is polyubiquinated  
lysosome for degredation
 Will detect protein IN RER BUT WON'T find receptor ( the the protein ) on
membrane (e.g. all is good until RER)
Ex  –
 – calnexin, calreticulin
SER  STEROID synth
 DETOX rx,
DETOX rx, poison
 ↑ hepatocytes (detox) + adrenal ctx (produces steroid hormones)

Golgi  Proteins/lipids ER  plasma membrane + vesicles

 Modifies N-oligos on nitrogen of asparagine
 Adds O-oligos on serine + threonine
 Add MANNOSE-6-phos for traffic to lysosomes
o FYI : I-CELL DISEASE – don't tag with mannose  secrete
enzymes OUTSIDE cell instead of lysosome
 Coarse face, clouded corneas,
corneas , restricted jts,
jts,
↑↑plasma lysosomal enzymes
 Fatal in chldhood
COPI  retrograde, Golgi  
ER
 ER

3
COPII  anterograde, RERcis-Golgi
Endosome outside or Golgi  lysosome or Golgi
Clathrin Trans-Golgi  lysosomes ,
Plasma membrane  endosomes
R-mediated endocytosis (forms coat)

Peroxisome membrane-enclosed organelle for catabolism very LCFAs + AAs

 Proteins destined for peroxisome incorporation synthesized on free
 polysomes
 polysomes (ribosomes?)

Proteosome = degradation damaged/unnecessary  proteins tagged by UBIQUITIN

Microtubule –
Microtubule – general action, processes - Cilia (details below), flagella
- Mitotic spindle
-  Axonal trafficking
- Centrioles
*arranged with neg ( - ) end near centrosome (MTOC  ) + pos (+) radiates OUT 
Microtubules - dynein vs. kinesin - dimers, each with 2 GTP
 Alpha + B-tubulin dimers,
- DYNEIN = RETROGRADE  (+  -) e.g. toward NUCLEUS = NEGATIVE
mnemonics – "I'm DYNING IN tonight"
(hannahs home-made mnemonics –
(coming to the home/nucleus)
**CLINICAL CORRELATE  herpes, polio, rabies viruses + tetanus toxin
are all exogenous substances that affect neuron cell bodies via
RETROGRADE  axonal transport 
(Im "DYing over here", regressing –retrograde")
 –retrograde")

- KINESIN = ANTEROGR
= ANTEROGRADE 
ADE ( -  +) e.g. away from nucleus
Tubulin Monomeric unites that comprise MT (necessary for movement cargo within cell )
Disease caused by defect in microtubule polymerization an d Chediak-Hagashi – MT polmerization defect  ↓↓ fusion phagosomes+lysosomes
fusion of phagosome with lysosome  Recurrent pyogenic infection
 Partial albino
 Peripheral neuropathy
Cilia structure 9+2 MT arrangement
Axonal dynein-ATPase  links peripheral 9 dblts  cilium bending
Disease caused by immotile cilia (and cause of immotility ) KARTAGENERS  – immotile cilia d/t dynein arm defect
 Male/female infertility
 Bronchiectasis
 Recurrent sinusitis
 Situs inversus
 Retrograde axonal transport dysf 

Drugs acting on microtubules to treat fungus? To treat Mebendazole/thiabendazole  – anti-helminth

worms? To treat cancer (2)? To treat gout? Griseofulvin  – anti-fungal
Vincristine, Vinblastine  – anti-CA
Paclitaxel  –
 – anti-breast CA
Colchicine  – anti-gout

Actin/Myosin –
Actin/Myosin  – general actions
Location where processing "goes wrong" in cystic fi brosis
- *Microvilli
- Muscle ctx
- Cytokinesis
- Adherens junctions
CFTR protein is misfolded in endoplasmic reticulum
- d/t ΔF508 mutation ( deletion phenylalanine )  interference folding +
post-translational processing of oligosaccharide side chiains
- degraded by proteosome instead of membrane translocation

DNA ligase Catalyzes formation phosphodiester

formation phosphodiester bond b/w
bond b/w 3' OH of DNA fragment with
adjacent DNA 5' -monophosphate
-monophosphate grp

4
DNA Polymerase I Read 3' 5' (e.g. start at OH grp and read to ward phos grp)
Synth 5' 3' (adding new NT's phospho grp on to the free OH grp of growing strand 
 "hydroxyl attack" + energy from new NTs phos g rp)
Both polymerization NTs and processing/repair
and processing/repair mechs
Polymerase III Prokaryote only 
Part of multiprotein complex, major replicating enzyme e. coli 
Topoisomerase and Abx - swivel points in DNA to relieve strain at replication (cut+reseal DNA)
Quinolones interfere here
Cytosine deamination = URACIL  if intact DNA repair mechanisms, these will be repaired (mismatch
(mismatch
repair genes will eliminate via base excision )
Dolichol Substrate for forming branched "carbohydrate trees"  that are transferred to
 proteins in synthesis glycoproteins (mostly protein w/ some attached sugars)
- on RER
- goes to golgi, then either plasma membrane/lysosome/secreted protein
"scientist wants to characterize the carbohydrate chains that will be transferred to
protein component of albumin. Which molecule functions for synthesis of these
chains?
*N-linked carbohydrate chains
chains that will be transferred to protein component of 
albumin are assembled in RER + attached to colichol phosphate

transferred to nitrogen of asparagine to form glycoproeins

- secreted = albumin
- retained in membrane = insulin-R
- targeted to lysosome = hexosaminidase A (tay-sachs
(tay-sachs))

Arachidonic acid Precursor of:

- PGs
- Thromboxanes
- Leukotrienes
FA in phospholipid membrane released by  phospholipas
 phospholipase
e A2
Ceramide sphingolipid from which sphingomyelin, cerebrosides, gangliosides are
Parent sphingolipid from
derived (think LYSOSOMAL STORAGE DISORDERS e.g. niemann-pick  genetic
deficiencies of lysosomal enzymes that should digest these spingolipids cause the
diseases)
diseases)
Dermatan sulfate GAG (glycosaminoglycan)
 proteoglycan (carbs w/ small proteins  remember if protein>>carb
-precursor of  proteoglycan
component = glycoprotein)
glycoprotein)
- part of ECM
Types: chondroitin sulfate, hyaluronic acid 
Remember *dermatan + heparan sulfates are substrates to enzymes deficient in
HURLER (Worse, corneal cloud) + HUNTER dz
Tetracycline Binds ribosomal 30s subunit ( prokaryotic
 prokaryotic small subunit  –
 – euk = 40s)
 prevents aminoacyl-tRNA attachment 

Aminoglycoside Streptomycin, gentamycin, tobramycin, amikacin

Inhibits eIFs = elongating initiation factors that help assemble 30s ribosomal 
subunit with initiatior tRNA

5
Ribosome formation, translation 30+50s = 70s prok
40+60=80s euyk

 ATP activates tRNA (A=activatation)

GTP = initiation, translocation, holding on to tRNA (G=gripping, going places)

A site –
site – incoming aminoacyl-tRNA
P – growing polypeptide chain
E = empty tRNA  AA has been transferred to growing molecule o n P site (exit )

Ribosome advances 3 NTs toward 3' end mRNA (e.g. toward end whose last NT 
has free OH)
OH)
- moves peptidyl RNA to P site = translocation
This moves peptidyl

Chloramphenicol 2 MOAs at 50S ribosome

1. Inihibits 50S peptidyltransferase
peptidyltransferase (this is the "top part" ribosome complex
2. Blocks peptide bond formation (so does clinda)

RIBOZYME RNA molecule that has catalyst  (E.g. enzymatic – "yme")

– "yme") activity 
Ribosomal rRNA  catalyzes peptide bond formation, transfers growing
 polypeptide to AA in A site (which then moves to P site when ribosome moves 3NTs
forward)
Hammerhead Ribozyme Catalyzes sequence-specific cleavage RNA PDE bonds d/t 2° structure they form
(looks like head of hammer )
- possible use as treatment of "activating" mutated genes (e.g. SOD1 in ALS)
synthetic hammerhead RNA w/ complementary sequence to mutant SOD1 mRNA
could potentially bind specifically to mutant + destroy via catalyzing PDE bond
cleavage
"removes mRNA without direct inhibition of translation initiation" –
initiation" – it's a
destruction rather than inhibition
Macrolides Erythromycin, azithromycin, clarithro – static
– static (Vs. cidal)

50S inhibitor  blocks translocation  – this uses GTP normally

*(CHLORAMPHENICOL is also acting at 50S but blocking PEPTIDYLtransferase)
PEPTIDYLtransferase)

Clindamycin chloramphenicol – block peptide bond formation at 50S

Same as second MOA chloramphenicol – 
ribosome
"Buy AT 30, CCELL (sell) at 50" 30S
Aminoglycosides (Strepto, genta, tobra) –
tobra) – bacteriocidal
Tetracycline –
etracycline – bacteriostatic

50S
Chloramphenicol, Clindamycin –
lindamycin – static
Erythromycin (macrolide) –
(macrolide) – static
Lincomycin –
incomycin – static
Linezolid (variable static vs. cidal)
**Linezolid is for VREs
**Linezolid
Mutation in early post-translational
post-translational modification collagen Ehler-Danlos –
Ehler-Danlos – skin + msk abnormalities
DNA methylation associated dz Fragile X
This in addition to TRI-NT repeat EXPANSION 

CGG triNT repeat in FMRI  gene  ↑r /o CHROMOSOMAL BREAK 

nd st
- 2 MCC MR (1 = Down’s)
- MACROCHORDISM (big testes), long face, LARGE + everted ears, autism,
MVP* (Fragile X = Xtra larges teses/jaws/ears)

6
Thick gums, large tongue, hip dislocation, clubbing feet, I-CELL dz
relative immobility extremities and abnormal inclusions in Def. N-acetylglucosamine-1-phosptransferase = defect in addition mannose-6-
fibroblasts phosphate moiety to lysosomal enzymes  released to extracellar space so
culture medium will contain lysosomal enzyme activity 

- Coarse facies, skeletal abnll, psychomotor retardation

retardation
- Type 1 –
1 – complete def., death in childhood 
- Type 3 –
3 – partial deficiency = milder dz (pseudo-Hurler)  survives to adulthood
 partial deficiency =
Incorrect splicing introns associated with what hematologic B-THALASSEMIA
disorder - B-globin gene (chr 11, HBB gene)
gene ) incorrectly spliced to give B- or Bo
(small function)

Hematologic dz caused by missense pt mutation HbS – Sickle cell

Change A-->T at position 6 allows glutamine valine
valine

HbC = modified version this error (glutamine

(glutamine lysine)
lysine)
- less serious and Asx if HbC/A but heterozygous HbS/C can act like HbSS
and homozygote HbCC gives hemolytic anemia

Transition vs. transversion pt mutation Transition is substitution within same "class"  purinepurine / pyrpyr (same
ring "type")

Transversion = switch b/w purine/pyr (A-T T-A or C-G )

(remember Purine –
Purine – PURe As Gold = Glutamine, adenosine; pyrimidine –
pyrimidine – CUT the
PY = cytosine, thymidine, uracil in proks)
Tautomerism switch point mutation bond via migration H+
Switch single vs. double bond via

Tautomers are isomers (structural isomers)

isomers) of organic compounds that readily
[1][2]
interconvert by a chemical reaction called tautomerization. This reaction
commonly results in the formal migration of a hydrogenatom or proton
proton,, accompanied
by a switch of a single bond and adjacent
adjacentdouble bond.
bond. The concept of
tautomerizations is called tautomerism. Because of the rapid interconversion,
tautomerizations
tautomers are generally considered to be the same chemical compound.
Tautomerism is a special case of structural isomerism and can play an important role
in non-canonical
non-canonical base pairing in DNA and especially RNA molecules.
Significance of cytosine deamination C  U  –
 – this is the only deamination rxn that can be CORRECTED via uracil-DNA
glycosylase (this can be missed in mismatch repair  –
 – HNPCC, endometrial CA)
*STEPS REPAIR:
1.Uracil-DNA glycosylase generates Abasic site = AP
2. DNA AP endonuclease
endonuclease sees newly formed Abasic site breaks PDE bond
3. DNA Polymerase sees break and creates nick +
nick + fills
4. DNA Ligase reforms seal with PDE bond
- ALSO CAN RECOGNIZE related deaminase rxn of METHYLATED cytosine
(methylated in regulation gene transcription – epigenetics
– epigenetics))
o 5methylcytosine thymine + ammonia (MC single NT
mutation) – corrected via thymine-DNA glycosylase – fixes
mutation) –
cystine—
cystine—thymine pt mutation in daughter cell 
o **Remember, thymine is a methylated uracil  so it makes
sense that CU would have methyl-CT
- all others NOT recognized 
o (this now prefers cytosine instead of 
Adeninehypoxanthine (this
thymidine)
thymidine)
o now prefers thymidine instead of 
Guaninexanthine (this now prefers
cytosine)
cytosine)
*recall –
*recall – deamination = removal of amino grp from molecule
NT base with ketone Guanine
NT base with methyl grp Thymine
Alkylating agents Cross-link guanine NTs in DNA damaging it enough to stop division
Cisplatin
Carboplatin

7
Base analog agents Incorrectly incorporate the analog into DNA but chemically different enough to not
make targeted protein, e.g. mismatch at base-pairing causes daughter DNA
mutated

BrdU  –
 – find replicating cells for research
Methylating agents Transfer methyl grps to DNA NT bases (not used for cancer Rx since it doesn't lead 
to cell death)
death)
*MGMT = methylguanine methyltransferase repairs

EMS = ethyl methanesulfonate  – guanine alkylation that can induce high rates of 
mutations  used in genetic screens/assays to induce mutations to be studied
Antimetabolite 5-FU (fluorouracil) –
(fluorouracil) – pyrimidine
 pyrimidine analog; "suicide inhibitor " – irreversible inhibition
thymidylate synthase

 Antipurine – azathioprine (cleaved to 6-MP), thioguanine

 Antipurine –

 Antifolate – MTX (analogue that binds, inhibiting DHFR and formation THF), TMP,
 Antifolate –
pyrimethamine, pemetrexed
DNA intercalating agent Insert b/w 2 NT pairs  ΔDNA transcription/replication

Fluorescent dye – Ethidium Bromide

Rx – Doxorubicin, Daunorubicin
Cancer Rx –
Aflatoxin = Aspergi
= Aspergillis
llis
Thalidomide  – teratogen with strict use policy for last resort anti-inflammatory 
(leprosy) + salvage chemo in MM (With dexamethosone)
 Birth defect = PHOCOMELIA (horrible
(horrible limb deformities as well as other
body regions)

DNA cross-linking agents Form covalent bond b/w DNA NT bases –can't

 –can't replicate/transcribe

Platinum
Free radicals Highly active in presence of unpaired electrons
-  Age-related cell damage
Superoxide
H2O2
Hydroxyl radicals
Ionizing mutagens + UV wavelenth/↑energy vs. normal length  covalent adjacent thymine bond
UV = ↓wavelenth/↑
formed  THYMINE DIMER (r/o skin ca)

radiation – radioactive materials with high energy that REMOVE electron

Ionizing radiation –
from molecule/atom  damage/death
Mutagens requiring repair via base excision  Xrays
 O2 radicals
  Alkylating agents
 Spontaneous rxns
uracil abasic sites created (AP sites) or single break (MCC = CU
strand break (MCC
deamination)

DNA glycosylase + AP endonuclease remove/repaire, polymerase+ligase fill in

Errors of replication A-G mismatch
T-C mismatch
Insertion
Deletion

Mismatch repair (hMSH/hMLH)
repair (hMSH/hMLH)

8
Recombinational repair One damaged strand has some replication –
replication – use as template
Nonhmologous end-joining (ALWAYS MUTAGENIC) –
MUTAGENIC)  – DNA ligase complexes join
separate ends dbl helix
N-terminal hydrophobic signal sequence added on during Sequence = "signal recognition particle" (SNP) –
 – attaches growing peptide +
synthesis via cytoplasmic ribosomes ribosomal complex to RER  opens up channel allowing peptide to thread into ER
lumen
Will be on any protein destined to be secreted / membrane-bound / lysosomal
If absent   protein would be UNABLE TO enter RER
enter RER in first place ( pre-folding
 pre-folding
error)
Lysosomes Contain enzymes (made in RER) that degrade sugars (glycosidases) + proteins
(proteases)
stains – vimentin
Intermediate filament stains – Connective tissue
stains – desmin
Intermediate filament stains – Muscle
*note – connects
– connects cytoplasmic bodies to membrane dense plaques in actin filament
structure of smooth muscle; cardiac + skeletal myopathies associated w/ 
mutations in this protein
stains – cytokeratin
Intermediate filament stains – Epithelial cells
Intermediate filament stains – GFAP neuroGLIAL cells –
cells – astrocytoma, ependymal cells
**REMEMBER – GFAP only marks astrocytomas, for prognosis use Ki-67
**REMEMBER – GFAP
stains – neurofilaments
Intermediate filament stains – Neurons
Drugs that act on microtubules Mebendazole/thiabendazole  – anti-helminth
Griseofulvin  – anti-fungal
Vincristine, Vinblastine  – anti-CA
Paclitaxel  –
 – anti-breast CA
Colchicine  – anti-gout
Dynein arm defects KARTAGENERS  – immotile cilia d/t dynein arm defect
 Male/female infertility
 Bronchiectasis
 Recurrent sinusitis
 Situs inversus

Partial albinism, peripheral neuropathy and recurrent Chediak-Hagashi – MT polmerization defect  ↓↓ fusion
pyogenic infections 2/2 molecular bio issue  phagosomes+ly
 phagosomes+lysosomes
sosomes
 Recurrent pyogenic inection
 Partial albino
 Peripheral neuropathy

Kinesin vs. Dynein DYNEIN = RETROGRADE  (+  -) e.g. toward nucleus

toward nucleus

Make-up of microvilli
Actin, myosin, MT roles in replication
Plasma membrane composition leading to decreased fluidity
and higher melting temp
RER activity + what cells have more
KINESIN = ANTEROGRA
= ANTEROGRADE 
DE ( -  +) e.g. away from nucleus
actin/myosin –
actin/myosin – NOT microtubules
Actin/myosin = cytokinesis
Microtubules = mitotic spindle, centrioles
MORE cholesteroal  and/or MORE  long saturated FAs
- secretory/exported proteins
- N-linked oligosacch addition
- Nissl bodies in neurons  ChAT  enzyme that makes Ach; peptide NTs
- ↑GI goblet cells (mucous secretion), plasma cells (Ab-secretion)

SER activity + what cells  STEROID synth

 DETOX rx,
DETOX rx, poison
 ↑ hepatocytes (detox) + adrenal ctx (produces steroid hormones)

9
Mitosis order Interphase
Prophase
Metaphase
Anaphase
Telophase

"PMAT" or "People Meet And Talk"

Hand action mnemonic

Sign and significance of tripolar mitoses
Prophase = fingers linked together in the middle
Metaphase = MIDDLE (flat hands)
 Anaphase = pulled APART (hands apart)
Telophase = TWO (close fingers to two fists)
= 3 clusters of chromosomes seen on telophase
 Signifies malignancy in tumor 

2 drugs that act on Na/K ATPase channel directly (not neuro) Ouabain  – binds K+ site
Digoxin/digitoxin (glycosides) – indirect inhib Na/Ca (true
(glycosides) – direct inhibit Na/K = indirect inhib
target)  ↑[Ca2+]in = ↑contract
Na/K pump activation Phosphorylated = ACTIVE 
ATP ADP (donates phos)
Collagen types I –
I – IV " Be ( So T otally)
otally) C ool,
ool, Read Books
I = Bone, Skin, tendon
 Type ONE = BONE 
II = cartilage (with hyaline), vitreous body + nucleus pulposus
 Type TWO = car TWO
TWOlage
III = Reticulin = skin, vessels, uterus, fetal tissue, granulation tissue
 Type III = ThreE D  defective in Ehlers-Danlos
IV = Basement membrane (Easy, think goodpastures)
 "Four = Under the Floor "

Disease a/w DEFECT in Type 1 collagen Osteogenesis imperfecta ("BRITTLE BONE") –

BONE") – COL1 A1/2
 The one that looks like child abuse
 Multiple fx w/ minimal trauma
 BLUE SCLERA (translucent CT over choroid)
 Hearing loss (ABNL MIDDLE EAR BONE)
 DENTAL  lack dentin

*remember 
I = Bone, Skin, tendon
 Type ONE = BONE 

10
Disease a/w DEFECT in Type 3 collagen Ehlers-Danlos – COL
– COL3 A1  collagen + lysine hydroxylase gene mutations
 Hyperextensible skin
 Easy BRUISING/Bleeds
 Hypermobile jts
**6
**6 types w/ varying inheritance/severity (AD or AR)
 TYPE 4 (rare) = MENKE's dz (x-linked depigmented, lusterless KINKY hair
with many facial/ocular/vascular/cerebral manigestations, copper
transport defect and ↓activity copper-depndent enzymes LYSYL
OXIDASE  –REMEMBER,
 –REMEMBER, THIS IS CU-DEPENDENT ENZYME that crosslinks
 pre-collagein in ECM to form mature collagen)
+/- associated with:
  Joint dislocation
dislocation
 BERRY ANEURYSM
 Organ rupture
*remember 
III = Reticulin = skin, vessels, uterus, fetal tissue, granulation tissue
 Type III = ThreE D  defective in Ehlers-Danlos

Disease a/w DEFECT in Type 4 collagen  Alport Syndrome

Syndrome (goodpasture = autoimmune not defect)
 hereditary GN
 ESRD
 HEARING LOSS
 +/- ocular disturbances
 MC type = X-LINKED RECESSIVE 
RECESSIVE (BOYS)

*remember 
IV = Basement membrane (Easy, think goodpastures)
Collagen – 4 steps within fibroblasts + location
Collagen – 1. Synthesis (RER)
RER)
o Translate alpha chains = PRE-PRO-collagen
o Gly-X-Y
 X/Y = PROLINE, hydroxyproline/LYSINE 
2. Hydroxylation (ER)
ER)
o Of Proline + lysine residues  VITAMIN C CRITICAL
3. Glycosylation (ER)
ER)
o Of Pro-alpha -chain hydroxylysine residues + formation PROcollagen via
H + DISULFIDE BONDS
o TRIPLE HELIX of 3 alpha chains
4. Exocytosis
o PROCOLLAGEN   extracell 

Collagen – 2 steps outside fibroblasts

Collagen – 5. Proteolytic processing
- CLEAVE terminal region = procollagenTROPOcollagen (insoluble)
6. Cross-link
- reinforce tropocollagen
tropocollagen via covalent LYSINE-HYDROZYLYSINE CROSS-LINKSb
CROSS-LINKSb
(LYSIL OXIDASE)  FIBRILS

Implicated genetic defect in osteogenesis imperfecta Type I collagen disorder

ColA1, ColA2  unstable collagen triple helix not as strong (phenotypic outcome
depends on unique changes in genes)
2 MC AAs in collagen Glycine
Proline
Gly-X-Y  where X = proline (or lysin/glycine), Y = hydroxyproline)
Cartilage with PAS stain Type III –
III – Reticulin (skin, vessels , uterus, fetal tissue, granulation tissue)
Lysyl oxidase Involved in forming collagen fibrils from pro-collagen triple helices that have been
secreted into extracellular space
*Copper-dependent
Cross-linkage via covalently binding LYSINE —HYDROXYLISINE  Fibrils

11
 nd
Cofactor requirement in early collagen synth VITAMIN C  –
 – 2 step (HYDROXYLATION) within fibroblast in ER
Without = SCURVY
 Weakened vessels = ulcerated gums, tissue hemorrhage, anemia, ↓wound 
healing, loose teeth, ↓bone formation

Elastin Stretchy protein in lungs, large arteries, elastic ligaments, vocal cords, ligamenta
 flava (connect vertebrae for relaxed + stretched conformations)
 PROLINE, GLYCINE – NONglycosylated forms
NONglycosylated forms
 Tropoelastin w/ fibrillin scaffold

Disease MC a/w elastin defect Marfans – fibrillin gene

**FIBRILLIN = large ECM proteins a/w elastic + non-elastic microfibrils
Elastase and associated disease elastase – normally balance break down/build up but in alpha-1-
Breaks down elastase –
antitrypsin excess elastin = EMPHYSEMA (panacinar) + CIRRHOSIS/liver failure
(#1 cause liver transplant in newborns!
Ddx uric acid + gout  primary reasons Lesch-Nyan
Alcoholism
G6PD
Hereditary fructose intoleranc
intolerance
e
Galactose-1-P
Galactose-1 -P uridyle transferase def . (severe galactosemia)
galactosemia)
**all disoders with increased accumulation of  phosphorylated
 phosphorylated sugars
sugars =
↑degradation products (e.g. AMP …uric acid)
Ddx uric acid + gout  secondary reasons OVER-PRODUCTION
Leukemia
Myeloproliferative syndromes (MPDs)
MM
Hemolysis
Neoplasia
Psoriasis
 Alcoholism

UNDER-PRODUCTION
Renal failure
 ASA
Diuretics
 Alcohol (all
 Alcohol (all 3 categories)
Direction DNA synthesis 5'3'
Direction RNA synthesis 5'3'
Direction DNA/RNA read 5'3' (e.g. mRNA is read 5'  3')
Protein synth NC
Actinomycin D Binds DNA, preventing RNA polymerase from moving along tem plate
Rifampin Binds B-subunit RNA polymerase, inhibits initiation RNA synth
Interstitial deleting Large DNA fragment deleted on single chr  pairing 2 genes not normally in
sequence with one another (e.g. could bring activation one gene from another)
 Fusion oncogene

Chromosomal inversion Large large segment becomesreversed  w/i same chromsome  rearrangement 
becomes reversed w/i
 post-breakage
 post-breakage chr =
chr = fusion oncogene
Ouabain Binds K+ on Na/K pump, inhibiting Na/K ATPase
Digoxin/digitoxin Cardiac glycosides
Direct bind/inhibit Na/K ATPase  indirectly inhibiting Na/Ca exchange = ↑Ca in
Direct bind/inhibit
cell = ↑contractility 
Normal amount of an enzyme present yet no enzymatic NONSENSE mutation – AA change generating 1 of 3 stop codons
activity –
activity – where is mutation?  mRNA is transcribed correctly
transcribed correctly but during protein translation, would stop early
(truncated, ineffective)
ineffective)

Three stop codons UGA UAG UAA

(U Go Away, U Are Gone, U Are Away)

12
Test for carrier genetic disease PCR
Amplify sequence of question and compare to normal
Steps in testing Lyme ELISA first  –
 – screening –
screening – sensitive, rapid (can
(can have false+)
Follow-up with more specific WESTERN BLOT (protein)
Area where splice acceptor mutation occurs 3' end eukaryotic intron (invariant AG just before end  intron)
intron) – HIGHLY
CONSERVED
5' end intron = GT (GU in RNA) necessary  –
 – splice donor site
snRNP Spliceosome
 removes introns  – recognizing GT at 5' + AG at 3' end = splice sites)
 mutation here greatly alters protein (B THALASSEMIA = SPLICING DEFECT 
chr11, HBB gene  additional, contiguous length non-coding mRNA or 
fragment  = SNP – SINGLE
discontinuous fragment = – SINGLE NT POLYMORPHISM)
POLYMORPHISM)

Location cleavage propetides collagen Extracellular  –

Cofactor required by phenylalanine hydroxylase
What "substance" crosses plasma membrane fastest?
 – first step; therefore is always "pro" type of collagen within cell
Tetrahydrobiopterin
*Defect in either  PKU (MR, hypopigmentation…)
CO2, followed by O2 then nitrogen, inhaled anesthetics etc.
 diffusion is as rapid for these gases as it is for them in water
 CO2 has higher solubility vs. water 

E-cadherin Allows formation of  junctional

 junctional complexes
complexes (critical for formation and maintenance)
maintenance)
via homotypic interaction b/w each other (cadherins) that initiates formation zona
adherens (including signaling paths) which are then activated to initiate formation
 zona occludens
occludens + desmosomes
desmosomes
Occludin Transmembrane cadherin specific to zona occludens
occludens tight junctions
Desmoglein Transmembrane cadherin specific to desmosomes
e.g. forms intercellular linkages at desmosomes which connect epithelial cells
epithelial cells
 PEMPHIGOUS VULGARIS –
VULGARIS – anti-desmoglein Abs
o Irregularly shaped erosions in GINGIVAL, BUCCAL, palatine
mucosae
o POSITIVE Nikolsky test –
test – apply pressure + epidermis appears
to separate from underlying dermis
o Bx: acantholysis w subsequent loss of cohesion

Sites of synthesis proteins destined for lysosomal RER

incorporation
Bullous pemphigous vs. pemphigus vulgaris Bullous = autoimmune IgG rxn vs. HEMIDESMOSOMES (collagen type XVII aspect)
Pemphigous = DESMOGLEIN, tight junctions specific to epithelial cells, blisters,
positive nikolsky, oral ulcers
Action of alpha-1-adrenergic agonist (e.g. phenylephrine ) on [Ca2+]in (IP3, DAG qiss –
 Alpha-1 agonists stimulate R on SM  ↑[Ca2+]in iss – Gq) 
vessels vs. muscarinic contraction (constrict vessel )
Muscarinic can induce NO release (aka EDRF  –
 – endo relaxing factor); produced 
factor); produced 
 from arginine by endothelial cells
ctx – A, I, H
Muscle band changes during ctx – A = NO CHANGE
I = shorten
H = shorten
(think – 
think –  A
 A is the best, so no need to improve, no need to Δ)

A-spans width myosin thick  filaments

(INCLUDING overlap actin thin) 
length set by length of mysoin (thus
noΔ @ctx)

H = thick myosin WITHOUT overlap

actin

I = actin filaments ONLY 

Z line – where actin filaments attach

13
MUST KNOW THIS – too easy to not  MUST KNOW THIS – too easy to not have on tip o
have on tip o tongue tongue

Calculating changing osmolarity Mass solutes in cell don’t

cell don’t change (while fluid volume
Ex: cell with osmolality of  does)
300mOsm/kg is placed in salt solution Mass intracellular solute before = C1V1
and grows to be 1.5x original size. Mass intracellular solute after =
after = C2V2
What is osmolality soln? C1V1 = C2V2
300mosm(1) x(1.5)  X = 200

Diseases caused by DNA mutation/repair defects

KEY – NER = NT excision repair, AR = recessive, AD = dominant
Dz Defect Inheritence Manifestations Tx 
Xeroderma pigmentosum NER AR ↑r/o all skin CA (1,000x↑
(1,000x↑) 1. retinoids - ↓CA but
↑incidence Japan irreversible calcification
tendons/ligaments
- acitretin – treats keratoses,
also used in psoriasis
2. 5-FU (pyramidine analog
antimetabolite)
Cocakyn's syndrome NER AR Bird-facies (thin nose, small head, large ears) No cure – supportive
Retinopathy, dwarf with long limbs,
photosensitive *CS2 worse than 1
Hyperpigment, erythema, teleangiectasias
Premature aging
Trichothiodystrophy NER AR Sulfur Rare, no cure
Brittle hair/nails
Fish skin –
skin – scaly
Physical/mental retardation
Fanconi's Anemia ROS AR BM fail w DNA repair defect Tx symptoms
11 genes - petechiase, bruise, pallor, café-au-lait  (anemia/leukemia/CAs)
DNA repair - infection, fatigue
- aplastic anemia (pancytopenia), leukemia,
Cycle ctrl solid tumors ( CA
CA – liver,
– liver, neck, esophagus,
vulvar )
Bloom Helicase AR ↓growth w/ ↑r/o malignancy
Butterfly facial telangiectatic erythema
Chr. Instab. -resp/GI infection
Werner's Helicase AR Aging, thin, tight, scleroderma-like skin First 10 yrs of life normal 
(WS gene)
gene) ↓muscle, wrinkle, hyperkeratosis death 40yo
Cataracts, osteoporosis, arteriosclerosis, CA,
DM No tx
 Japan, M=F 

14
ATAXIA-TELANGIECTASIA Chromos + AR Heterogenous, but marked by Treat Sx
chromatid chr 7 + 14, neurodegeneration (ataxia) + telangiectasia Death teens
breaks w  ATM gene (2/2 dilation vessels)
rearrangmt **(= TCR + Ig - sino-pulm infections
regulation ↑r/o CA, sensitive to xrays/radiation
chr)**

HNPCC/ Mismatch AD Change in # of repeats of germline alleles  C'scope q2yr at 25yo, q1yr
LYNCH SYNDROME repair MSH2, accumulation mutations  @40yo (colectomy
(colectomy usual at this
Microsat. MLH1, 80% r/o CRC  pt)
Instability (PMS2), Ras Females have 30-50% r/o endometrial 
genes **L colon>R colon – unusual**

BREAST CA p53 AD 60-80% r/o serous adenoCAs CA tx same as regular breast CA

DNA repair, BRCA1 but can do ppx mastectomy
cycle BRCA 2 = ovarian , prostate , pancreatic 
 pancreatic 

GENETICS
Blotting –
Blotting – which for what SNoW DRoP
S = DNA
N = RNA
W = Protein

Southwest = DNA-binding proteins (TF factors )

 This makes sense  DNA = South, TF=Protein = West
 Use labeled oligoNT probes

Blot that allows determination of whether Northern blot

absence of protein is due to f ailure gene  Isolate RNA from PMNs  gel, blot, 32-P-DNA probe for specific gene
transcribed vs. post 
vs.  post -transcriptional
-transcriptional defect
Technique used to separate false positive HIV- Western blot
ELISA from true positives
Uses DNA-DNA hybridization Southern blot
 Indirect geenetic testing within families, relatedness of individuals,
determination epidemiologic relatedness of bacterial biotypes, e.g. strains
S aureus producing TSS

Blot that gives semi-quantitave result for level of  Northern blot
gene expression in tissue

15
Microarray use (for usmle at least)
Test used to test for antibodies
Uses of FISH
Steps in production recombinant DNA (for
cloning)
Conditional vs. constitutional transgenic mice
RNAi
When in mitosis do you stain for karyotyping?
Microsatellite instability
Lab technique that is best at detecting whether
disease is heritable form (E.g. gene deletion) or
sproadic
Method of coupling Abs to fluorescent markers
to determine cell surface markers of whole cells,
e.g. CD34+ stem cells
Term - Codominance
Term –
Term – variable expression
Term – incomplete penetrance
Term –
SNP detection (single
( single NT polymorphisms)
polymorphisms ) to study dz/tx
 Genotyping
 Forensics
 Predisposition to dz
 Cancer mutations
 Genetic linkage analysis
*detecting relevant amt complementary nucleic acid sequences to dna/rna
probes
ELISA
Two methods:
1. Pts blood + test antigen (coupled to enzyme probe)  does pts
immune system recognize? 
2. Pts blood + test antibody (coupled)  is antigen present? 
Most sensitive/specific for HIV 100%
HIV  100% each
Microdeletions at molecular level (when
( when deletion too small to see on
karyotype
Fluorescent –
Fluorescent – gene is present
None = gene has been DELETED
 Isolate eukaryotic mRNA ( post-RNA
 post-RNA processing)
processing )
 Expose to reverse transcriptase cDNA
 Insert cDNA into bacterial plasmid containing
plasmid  containing antibiotic resistance genes
 surviving bacteria on Ab medium produce cDNA library 
targeted insertion/deletion gene via homologous
Conditional = targeted insertion/deletion
recombination
Constitutive = random insertion gene into mouse genome
dsDNA made to separate + degrade target mRNA
 Synthesized to complementary mRNA
Metaphase
Characteristic with loss-of-function in mismatch repair genes (hMLH, hMSH 
HNPCC , endometrial CA, ovarian CA, gastric CA
CA))
 Areas of diNT repeats a/w "slippage"  @replication
 @replication that Δs number of 
repeats on new strand (=instability)
o Mismatch repair genes would normally fix
*Normal microsatellites can be 2-4bp totaling <150bp total (↑↑repeats
↑↑repeats =
↑↑instability)
↑↑instability)
PCR – can see Δ size DNA of amplified band
If INHERITED
If INHERITED – ALL
– ALL CHROMOSOMES in body will  show shorter allele WHEREAS
SPORADIC will ONLY have abnormal/short allele IN TUMOR tissue/cell-types
SPORADIC will 
FACS
Neither of the 2 alleles are dominant 
Blood groups (A, B, AB) –
AB) – O is "no allele" 
Nature + severity phenotype vary 1
vary 1 person another
2 pts w/ NEUROFIBROMATOSIS may have varying severity
Not all individuals with mutant genotype show mutant phenotype
16
Term – pleiotropy
Term – 1 gene > 1 effect on person's phenotype (sort of  opposite locus heterogeneity )
PKU causes many seemingly unrelated symptoms (MR hair/skin Δs )
OSTEOGENESIS IMPERFECTA (excess atypical fx, scoliosis, basilar skull
deformities, blue sclerae, opalescent teeth, skin laxity)
Term - imprinting Diff in phenotype depends on whether mutation is of  maternal vs. paternal 
origin
PRADER-WILLI – Dad  –
 – "happy puppet "
ANGELMAN'S – Mom – hyperphagia
– hyperphagia + obesity 
Chr15*
Term – loss of heterogeneity
Term – Patient inherits/develops mutation in tumor suppressor gene then the
COMPLEMENTARY allele must be deleted/mutated BEFORE CA develops
RETINOBLASTOMA (Rb p100)
Term – Dominant negative mutation
Term – Exerts DOMINANT EFFECT  heterozygote has non-functional altered protein
that prevents normal gene product from functioning
MUTATION of  TF in its ALLOSTERIC
its ALLOSTERIC SITE   nonfunctioning mutant can still
bind DNA thereby PREVENTING wild-type TF from bnding
Term –
Term – linkage disequilibrium Tendency for certain alleles to occur together more often than expected by
chance
 Measured in  population NOT family +
family + varies between different pops
different pops

Term - Mosaicism Occurs when cells in body have different genetic makeup
- Can be germ-line mosaic – can produce disease not carried in parent's
somatic cells
LYONIZATION- random X inactivation in females
DOWN'S trimsomy w/ mosaicism 47, +21 /46 -2-3% Down's, less severe
etc) – has half normal cells, half not 
phenotype (↑IQ etc) –
NON-disjunction chr21 occurs DURING MITOSIS NOT MEIOSIS in an
early cell division)
Term –
Term – Locus heterogeneity Mutations at different loci produce same phenotype (Sort of opposite
 pleiotropy )
*MARFAN'S, MEN 2A/B + HOMOCYSTEINURIA all cause MARFINOID HABITUS
*ALBINISM (+
(+ acular type – e.g. color-blindnessb)
*OSTEOGENESIS IMPERFECTA (type 1 procollagen – chr7 OR chr 17 BOTH lead
to imperfect formation trimeric protien)
Term –
Term – heteroplasmy Presence both normal + mutated  mtDNA = variable expression in
mitochondrial inherited dz

LEBER'S HEREDITARY OPTIC NEUROPATHY  –

degeneration retinal ganglion cells + axon leading to
acute loss vision

Term – uniparental disomy

Term – Offspring receives 2 copies chr from 1 parent and no copies from other

17
NONDISJUNCTION – meiosis 1 vs. 2
Reciprocal vs. Robertsonian translocation
3 DIFFERENT types Down's inheritance
Pedigree with horizontal transmission
horizontal transmission
Pedigree with vertical transmission
vertical transmission
Pedigree x-linked recessive
Pedigree x-linked dominant  *If DAD
Example x-linked dominant
Heteroplasmy
= failure of  paired 
NONDISJUNCTION = failure  paired chromosomes to separate + go to diff daughter 
cells leading to one daughter cell getting extra chromosome (n+1) while the other is
other is
one chr "short" (n-1)
MEIOSIS I - if NONDISJUNCTION HERE  child will get 3 different copies of gene (2
 from 1 parent + 1 from other parent) b/c homologues carry SIMILAR but NOT 
IDENTICAL info
MEIOSIS II – sister chromaatids (2 identical copies SAME chromosome) should separate
 if NONDISJUNCTION HERE  –  – 2 copies SAME EXACT 
SAME  EXACT chrosome passed to progeny
(e.g. 1 allele x2 from 1 parent and on e from other )
SUM if mom has alleles A+B, dad has C+D  if kid gets A, B, C = meiosis I  A,
 A, A, C =
meiosis II 
RFLP (restriction fragment length polymorphism) can detect region near centrosome of 
a chromosome (E.g. chr21)  surrounding region exhibits crossover suppression 
genetic exchange canNOT occur in this area and so probe = reliable
reliable marker
marker individual 
individual 
chromosome
Reciprocal: true exchange DNA chrchr (fragments b/w chromosomes)  FUSION 
GENE or CHANGE EXPRESSION existing gene
 BCR-ABL 9;22 CML
Robertsonian: large fragment 1 chr   another WITHOUT a " return" 
return"  of DNA (e.g. non-
non-
recipricol)
 ACROCENTRIC CENTROMERES (
o 13, 14, 15, 21, 22
 Minority DOWN's has 21 14 robertsonian (MCC Downs = trisomy )
1. Trisomy 21 (47, +21) - MCC
2. Trisomy MOSAICISM 21 (47, + 21 / 46)  – 2-3%
a. 2 "populations" of cell types –
types  – normal cell line (46 chrs) AND
chrs)  AND
nd
2 line w/ trisomy 21
i. Less extreme phenotype (e.g. ↑IQ)
3. Robertsonian translocation (2114)
AR – all effected are in same generation, e.g. unaffected parents but affected
kids
- 25% offspring 2 carrier parents affected, see in one generation only
(usually)
- Commonly more severe than  AD disorders   shows up in childhood 
AD – 50% offspring affects, across generations
- Often PLEIOTROPIC , presenting after puberty 
- FH crucial to dx 
M > F ( female
 female must be homozygous),
zygous), but dad never passes on to his son (e.g.
NO male  male
male transmission)
transmission )
- 50% sons to MOM CARRIER affected (heterozygoous mom)
-
*If DAD is affected  ALL DAUGHTERS affected 
*If MOM
*If MOM is affected  Sons and daughters MAY be affected 
HYPOPHOSPHATEMIC RICKETS (formerly = vitamin-D-resistant rickets)
- ↑ phosphate wasting PROXIMAL TUBULE
 rickets-like
rickets-like presentation
Normal AND mutant MITOCHONDRIAL DNA (mtDNA)are expressed
18
Ex of mitochondrial inheritance + genetics
inheritance
Female who is heterozygous for X-linked
recessive gene can sometimes have mild
expression of disease phenotype - how?
Female expressing FULL phenoytype of x-linked
recessive disease
Hardy-weinberg
Given that 1 partner is heterozygous for an
autosomal recessive trait (pq) and the
 frequency of dz (A), AND NO OTHER INFO, how
could you predict the chance that the partner
will have a diseased baby without
baby without knowing the
other partner's status?
*transmission via mom only  all offspring (M/F) may have
may have signs dz
**often d/t  failure
**often  failure oxidative phosphorylateion
- Variable exprssion d/t heteroplasmy
MITOCHONDRIAL MYOPATHIES
- LEBER’S HEREDITARY OPTIC NEUROPATHY  – acute loss of central vision
- MYOCLONIC EPILEPSY
- MITOCHONDRIAL ENCEPHALOPATH
ENCEPHALOPATHYY
"RAGGED RED FIBERS " on microscopy
X inactivation is random event  normally, female has enough "normal"
phenotype b/c on average, ½ of cells will express normal allele  HOWEVER,
extrae degrees of X-chr inactivation can lead to  predominance one allele 
can express gene
 G6PD – mild anemias
 Hemophilia – mild bleeding
Possible if concomittant TURNER'S SYNDROME  (SHORT stature etc) since only
1X
 WILL SEE ABNORMAL KARYOTYPE – will see a missing sex chr 
2 2
p + 2pq + q =1
p+q=1
generally, given disease freq
2
(p ) or allele freq (p)
if GIVEN disease freq,
freq, than
2
calculate mutant allele freq = √p = p
Using, p, find normal allele freq = 1-p = q
Now can determine carrier freq = 2pq or if asked to predict FUTURE baby given
 just one partner, using the calculated p+q
p+q AND BE SURE to account for various
 possible outcomes as you would with
with ANY baby problem  – e.g. if asking about
baby carrier status to a heterozygote + normal person, than know it is 50% but
nd 
if you DON’T know status 2 partner, use allele freq population as frequency 
that gene in partner (almost
partner  (almost as though treating like variable penetrance)  – see
below problem
2
If frequency of dz = A,, then a = p
- allelic frequency = √A  this will also be EQUAL TO frequency egg
carrying the recessive allele ( √a, or pA)
pA)
- if 1 partner is KNOWN CARRIER, there is 50% of passing on recessive allele
- thus, chance that he will have a child with the disease = (0.5)( √A), i.e.
(0.5p)
nd
with numbers: if  1% population has X and 1 partner is carrier, 2 partner
status unknown
2
0.01= p  p = 0.1
0.01=
19
Change in H-W equation if disease is X-linked
ASSUMPTION MADE IN H-W EQUATIONS
LINKAGE DISEQUILIBRIUM
Genetic drift vs. gene flow
Males hemizygous = 1 allele FREQUENCY OF ALLELE will be EXACTLY THE 
2
SAME as the GENOTYPE e.g. q = q (incidence dz = incidence allele)
MALES: p + q = 1 is equation expressing allele freq AND gen. freq
2 2
FEMALES: p + q = 1   allele freq ONLY; for gen. freq, need  p + 2pq + q =1
"The incidence of DMD in N. America is 1/3000. Based on this frequency, what
is the gene frequency of this trait?"  1/3000! 
**ON EXAM, BE CAREFUL – they– they will not say "THIS IS  X-linked " so PAY 
 ATTENTION to the DISEASE BEING MENTIONED – do – do not go right to equation
b/c it changes If x-linked 
 x-linked = Boys W ish
(  ish F or 
or H annah's
annah's GOLD H ockey 
ockey Skills – bruton's
– bruton's
agammaglobulinemia, wiskot-aldrich, fabry's, hemophilia, G6PD, ocular 
albimism, lesch-nyhan, duchennes(+beckers), hunters syndrome)
P=1
**DON’T
**DON’T FORGET TO MULTIPLY BY 2 TO GET CARRIER FREQUENCY after 
calculating q (carrier = 2pq and if p=1, carrier = 2q)
Preferential association of allele at one locus with another allele at nearby
locus more frequently than be chance alone
DRIFT –
DRIFT  – gene frequency
gene frequency Δ d/t  FINATE population size  – would ONLY SEE in
small/closed communities
FLOW – gene exchange b/w different  populations
FLOW –  populations
20
 WORKING THROUGH ALPHA-THAL genetics

27yo Asian-American
27yo Asian-American male comes to ED with RUQ abdominal pain
abdominal pain + nausea. Studies show mild, microcytic hypochromic anemia + target cells.
Has a ____ who died at birth from blood disease and uncle with HbH. Wife has completely normal blood. Chance that patient will have carrier 
child . We know that BOTH parents must have one completely normal alpha/alpha allele and one completely abnormal - - / - - allele to have had 
hydrops baby. Because patient is presenting with symptoms, can
assume he carries trait, e.g. 2 bad alleles out of 4 AND since he is living
must have one full normal + one full abnormal  e.g. ( a a / - -)
 will
will have 50%
chance
 passing on (a
a) allele and 
50% chance of 
 passing on bad 
( - -)
-) allele. Since
wife is clean, 50%
chance child
will have trait

*NOTE* the double mutant allele (a a ) is MC in asian population. Otherwise, more frequently have trait with (a - / a - ) or silent carrier (a - / a a )

**REMEMBER** 2 variations "alpha-thal trait "  "  ( a a / - - ) OR ( a - / a - ) 2 alleles

HbH = (a a / a - ), Hydrops = (a a / a a) 3 + 4 alleles
Silent carrier = ( a - / a a) 1 allele

Disorders by mutated gene/function (see

( see separate "Chromosomal" table too )
 ATM gene mutation ATAXIA TELANGIECT
TELANGIECTASIA
ASIA
(as name implies…) multiple dilated vessels + progressive ataxia
Gene – kinase responsible for  recognizing/correcting errors in duplicating
Gene –
DNA during cell division
normal = repair ds DNA break
mutant = ↑sensitivity ionizing radiation  frequent chromosomal
abnormalities
↑↑incidence MALIGNANCIES ESPECIALLY lymphoreticular (these cells are
dividing most frequently ) = HL, NHL, leukemias
Excision endonuclease XERODERMA PIGMENTOSUM
 UV light sens  freckles, skin CA, corneal ulcerations
Gene thymine dimer repair via nick PDE bond on strand w/ dimer on both
sides + removes
Defect –
Defect – dimers persist

21
Splice site mutation (5' UTR of ATP7B gene) WILSON'S
Copper accumulation (d/t absence ceruloplasmin) in liver, brain, cornea
- Asterixis
- BG degeneration producing parkinsonian sx
-Kayser-Fleisher rings –
rings – corneal deposits
DOWN's 1. TRISOMY 21 (47, +21) - MCC
2. MOSAICISM 21 (47, + 21 / 46)  – 2-3%
Trisomy MOSAICISM
Trisomy 
a. 2 "populations" of cell types –
types  – normal cell line (46 chrs)
nd
 AND 2 line w/ trisomy 21 –
21 – ½ nl, ½ not 
i. Less extreme phenotype (e.g. ↑IQ)
NON-disjunction chr21 occurs DURING MITOSIS NOT 
MEIOSIS in an early cell division)
3. ROBERTSONIAN TRANSLOCATION (2114)

DOWN'S trimsomy w/ mosaicism 47, +21 /46 -2-3% Down's,

Chromsomal disorders - specific chromosome

chromosome locations
Disease Chrom- Gene Manifestations
Osome
CYSTIC FIBROSIS 7 CFTR Protein misfolded and improper oligosacch additions at endoplasmic
 AR ΔF508 reticulumproteasome (degredation) instead of plasma membrane
(phenylalanine delete)  Pseudomas, S. aureus infections  PNA, bronchitis/bronchiectasis
 Pancreatic insuff, steatorrhea, VitA/D/E/K def 
 Male infertility
 Biliary cirrhosis, meconium ileus
Dx ↑NaCl on sweat test ; PCR + ASO probes
Tx enzyme + vitamins etc
N-acetylcysteine (LOOSENs mucus plugs  CLEAVES disulfide bond w/i
glycoproteins)
MEN 2A/2B 10 RET – RTK that binds neutrophic BOTH 1.medullary thyroid CA 2. pheochromocytoma;
 AD  factors that signal cell to  plus
grow+divide (gain of  A=pituitary adenoma
 function/activating)
 function/activating) B=oral/facial ganlioneuromatosis (e,g, mucosal neuromas- LIPs) +marfinoid 

**OTHER RET = hirschsprungs

PRADER-WILI 15q11 (deletion in area affected by Maternal deletion (With silent, methylated father allele) = Angel Mans
VS. imprinting ) (happy puppet)
ANGELMAN P aternal
aternal deletion (silent/methylated mom allele) = P rader-Willi (MR,
rader-Willi (MR,
hyperphagia+obesity with initial poor feeding)

CRI-DU-CHAT 5q microdeletion High pitched monotonic cry 

- Microcephaly, wide-set eyes, MR
- Epicanthial folds
- CARDIAC ABNORMALITIES , e.g. VSD

LI-FRAUMENI  AD  p53 ↑r/o breast CA, colon CA, soft-tissue sarcoma, osteosarcoma, brain tumors,
Loss-of-function leukemia + adrenocortical CA
mutation/deletion tumor
suppress gene

22
MICROSATELLITE  AD w/  hLMH1 + hMSH2 MC association = HNPCC but also in:
INSTABILITY (2+) variable mismatch repair genes - Endometrial CA
 pene--
 pene - Ovarian CA
trance
- Gastric CA

DIGEORGE 22q11 *thymus  – structural/functional defect; missing  T-cell immunodeficiency 

*hypoparathyroid
hypoparathyroid = 2° hyper calcemia
calcemia
*craniofacial abnormalities, palate

SICKLE CELL  AD Glutamine valine

valine @position 6 in Beta-globin gene

WILMS TUMOR 11p13 Microdeletion  Malignant urinary tract tumor

 2/3 dx by 4yo
 Surgical removal 

NEUROFIBROMAT 17 NF1 tumor-suppressor gene 90% NF cases (vs. type 2)

OSIS  AD  Multiple neurofibromas
TYPE 1  Café-au-lait
(VON  Lisch nodules – pigmented
 – pigmented iris hamartomas
RECKLINGHAUSEN)  ↑r/o pheochromocytom
 pheochromocytoma
a + mengingiomas
mengingiomas

NEUROFIBROMAT 22 NF2 tumor suppressor gene  BILATERAL acoustic neuromas (schwanomas is tip-off) –
tip-off) – otherwise,
OSIS  AD the rest are both NF1/2:
TYPE 2  Neurofibromas
 Café-au-lait
 ↑r/o meningioma+pheo

MARFAN 15 FBN1 – fibrillin 1  Marfinoid habitus –

 AD
**FIBRILLIN = large ECM proteins
a/w elastic + non-elastic
microfibrils
habitus – tall, hyperextensible, pectus excavatum +
kyphoscoliosis
 Subluxation lens
 Heart defects
o Cystic Medial Necrosis of aorta
o Dissecting AA
o  – Mitral regurg = holosystolic murmur 
Valvular insufficiency  –
in apex 
o MVP = midsystolic click )

VON HIPPEL- 3 VHL = t umor

umor suppressor gene  Hemangioblastomas CNS + RETINA
LINDAU (VHL)  AD  RENAL CELL CA
 Cysts internal organs

TUBEROUS  AD TS 1/2  Sebaceous adenomas (Angiofibromas of sebaceous glands)

SCLEROSIS o Subependymal nodules = LISCH NODULES
 Epilepsy
 MR
 dysplastic white matter lesions = Hamartomatous lesions skin, CNS,
viscera
 Cortical tubers
 Shahreen patches (see picture -- -- --- --- 
  Ash-leaf spot (hypomelanic, light patches,
Wood's)
 RENAL ANGIOMYOLIPOMAS
Heart Defect
RHABDOMYOMAS

23
OSTEOGENESIS 7 or 17 COL1A1/2 – type 1 procollagen **PLEIOTROPY **
** - blue sclerae seemingly unrelated to fx
IMPERFECTA - locus **LOCUS OF HETEROGENEITY 
HETEROGENEITY ** ** 2 diff single chromosome
("BRITTLE 
("BRITTLE  hetero- mutationssame dz
geneity   Looks like child abuse  Multiple fx w/ minimal trauma
BONE" )
 AD  BLUE SCLERA (translucent CT over choroid)
 Hearing loss (ABNL MIDDLE EAR BONE)
 DENTAL  lack dentin

*remember 
I = Bone, Skin, tendon
Type ONE = BONE 

EHLERS-DANLOS  AD and  COL3A  Hyperextensible skin

 AR – Type 3 collagen  Easy BRUISING/Bleeds
many  Hypermobile jts
types **6
**6 types w/ varying inheritance/severity (AD or AR)
+/- a/w:
  Joint dislocation
dislocation
 BERRY ANEURYSM
 Organ rupture

*remember 
III = Reticulin = skin, vessels, uterus, fetal tissue, granulation tissue
Type III = ThreE D  defective in Ehlers-Danlos

ATAXIA- Chro- AR Heterogenous, but marked by neurodegeneration (ataxia) +

TELANGIECTASIA mos + chr 7 + 14, ATM
14, ATM ( PI3
PI3 kinase) telangiectasia (2/2 dilation vessels)
chrom- that phosphorylate >700 - sino-pulm infections
atid  proteins in DNA repair * inc. ↑r/o CA, sensitive to xrays/radiation
breaks p53 + BRCA-1 tumor supp
w/ ( chrs correspond to = TCR + Ig
rearra reg)**
ngmt
(WERNERS )  AR WS gene  helicase error Aging, thin, tight, scleroderma-like skin
↓muscle, wrinkle, hyperkeratosis
Cataracts, osteoporosis, arteriosclerosis, CA, DM
 Japan, M=F 

FANCONI  AR 11 genes  DNA repair, ROS BM fail w DNA repair defect
vulnerability, Cell cycle - petechiase, bruise, pallor, café-au-lait 
dysregulation - infection, fatigue
- aplastic anemia (pancytopenia), leukemia, solid tumors ( CA – liver,
– liver, neck,
esophagus, vulvar )
- Tx symptoms (anemia/leukemia, etc)

XERODERMA  AR Excision endonuclease –

endonuclease – thymine UV light sens  freckles, skin CA (1,000x↑
(1,000x↑) , corneal ulcerations
PIGMENTOSUM dimer repair  ↑incidence Japan
Tx: 1. retinoids - ↓CA but irreversible calcification tendons/ligaments
- acitretin – treats keratoses, also used in psoriasis
2. 5-FU (pyramidine analog antimetabolite)

Normal gene thymine dimer repair via nick PDE bond on strand w/ dimer on
both sides + removes
Defect –
Defect – dimers persist

BREAST CA  AD BRCA 1 (2 = ovarian/ prostate/ 60-80% r/o serous adenoCAs

pancreatic)

ALS  AD SOD1 – copper/zinc superoxide

dismutase

24
MENKE'S  X-  ATP7A – ATP-dependent copper Ehlers-Danlos
Ehlers-Danlos type 4 – "collagen"
collagen" connection is due to requirement copper
(TYPE 4
TYPE 4 E HLERS
HLERS- linked  transport protein co-factor for lysyl oxidase (final steps collagenin EC space)
 defective copper transport + abnormally ↓ activity copper-dependent 
D ANLOS )
enzymes (one of which is lysyl oxidase ) with ↓ ceruloplasmin levels

-depigmented, lusterless hair = "KINKY HAIR"

- osteoporosis, anemia
- facial/ocular/vascular/cerebral manifestations (think
(think head-up + vessels,
which always comes with collagenous dz)

"A 4mth old boy appeared healthy at birth but now has poor growth,
↓feeding and delayed developmental milestones . PE shows listlessness +
matted, sparse + very pale hair "
HUNTINGTON 4 CAG triNT repeat   Depression
 AD  Progressive dementia
 Choreiform
 CAUDATE ATROPHY 
 ↓GABA + ACh in brain
 20-50yo

SICKLE CELL  AR

FAMILIAL  APC - tumor suppressor gene

ADENOMATOUS
POLYPOSIS

RETINOBLASTOMA  AD w/  Rb - tumor suppressor gene

variable ** ALSO IN OSTEOSARCOMA
IN OSTEOSARCOMA** **
 pene--
 pene
trance
2+
WILLIAM'S 7q El asti 
asti n (microdeletion) Elfin facies, HYPER-Ca 2/2 ↑sensitivity to
sensitivity to vitD), good verbal,
good verbal, very friendly,
very  friendly,
DISEASE heart issues

ACHONDROPLASIA 3 FGF-R3 Dwarf, short limbs, but normal head/trunk size

 AD - cell signaling defect **a/w advanced paternal age

FAP 5  APC  –
 – deletion - >puberty, colon covered with polyps
 AD - CRC always
CRC always if not resected /(usually ~40yo)

DUCHENNE'S  X- Dystrophin DUCHENNE = frame-shift = DELETION dystrophin gene  accelerated

MUSCULAR linked  muscle breakdown
DYSTRPHY VS.  – LARGE DELETION single gene vs. - Onset <5yo = pelvic girdle weakness (need UE helpto get out of 
 pt mutation same gene chair “sign” = COWER’S ) progresies superiorly 
BECKER' S
- PSEUDOHYPERTROPHY CALF muscles 2/2 fibrofatty replacement 
replacement 
muscle
- Cardiac Myopathy 
- Dx = CPK, muscle biopsy 
- **Dystrophin Gene (DMD) = helps anchor muscle fibers (skeletal +
cardiac)
cardiac)
- LONGEST known human gene  rate spontaneous mutation
BECKER’S = IN-frame deletion or insertion
- less severe, some functional gene made
- Onset adolescence  early adult 

**SUBCLINICAL FEMALES** - heterozygous carriers have degeneration

 fibers
ADPKD 16  APKD1 (90%) *ALWAYS BL, massive ↑ kidneys d/t multiple large cysts
 AD *Present flank pain , hematuria ,HTN, RF 

25
FAMILIAL ↑↑LDL 2/2 defect/ absent
absent LDL-R
HYPERCHOLESTER **Heterozygotes (1/500) = 300 
OLEMIA (TYPE IIA ) **Homozygotes (RARE) = 700 +
- Severe atherosclerotic dz early in life
- TENDON XANTHOMAS (achilles)
- MI <20yo

HEREDITARY BLOOD VESSELS

HEMORRHAGIC - Telandiectasias
TELANGIECTASIA - Recurrent epistaxis
(OSLER-W EBER
EBER- - Skin discoloration
RENDU) - AVMs

HEREDITARY Spectrin OR Ankyrin Spheroid RBVs d/t  hemolytic anemia + SPLENECTOMY CURATIVE
SPHEROCYTOSIS ↑MCHC

MYOTONIC 19 CTG triNT in protein kinase MyoTonic = CTG (vs. CGG = fracile X)
DYSTROPHY  AD Clinically UNIQUE:
(can be - Weakness
spont.) -  Atrophy 
- Myotonia (tonic ctz)
- Head+neck often most weak/atrophic
most weak/atrophic
WONT RELEASE HAND WHEN YOU SHAKE 
FRAGILE X  X- CGG triNT repeats ↑ r/o CHROMOSOMAL BREAK 
nd st
linked  FMR-1 gene - 2 MCC MR (1 = Down’s)
- MACROCHORDISM (big testes), long face, LARGE + everted ears,
(xq27) autism, MVP* (Fragile X = Xtra larges teses/jaws/ears)
IN ADDITION to TRI-nt rpt exp, also role of DNA METHYLATION

Dx = >4% metaphase chromosomes must show specific break-pt on X chr 

(percentage above 4% does NOT correlate w/ severity MR)

FINAL MIX GENETICS, MOBIO, CELL BIO

Child with poor eye contact and HAND FLAPPING Fragile X
CGG repeat
1/2
If 1/100 ppl have disease A which is AR, what is (1/100) = 1/10 = p
carrier population freq? 1 – 1/10 = 9/10 = q
2pq = 2(9/10)(1/10) = 18/100
Calculating changes in volume with compartments C1V1 = C2V2 (before and after change in environment)
of different salt concentrations Key is that Mass = C x V and this remains constant 
Mediator of lysosomal enzyme delivery to Clathrin-coated vesicles
lysosomes
Given phenotype that is related to inheritable PCR
tumor, best lab test to determine if it i s due to
- the cells in an inherited disease
inherited disease will all show the
show the different (mutant)
inherited mutation or sporadic mutation?
DNA allele size as all cells came from same progeny
- cells in sporadic disease will only have abnormal IF 
abnormal IF  you are testing
cells from tumor tissues  – all other, non-involved cells will only
provide alleles of “normal” size
2 ways that a female can exhibit phenotype of X- 1. Concomitant Turner 45X,0 (hints include a short stature, female 2  sex
linked recessive mutation characteristics) –
characteristics) – this is similar to being male with only 1 X copy
2. 2 copies mutant X gene –
gene  – must be a disease that does not af fect father’s
fertility, such as G6PD
Common sex chromosome aneuploidy that would Klinefelters XXY – only ones with two X’s, thereby leading to inactivation of 
have fetal tissue expressing Barr bodies one (Barr)
nd
- NOT Turner’s
NOT Turner’s 45XO (even though this is “female” missing 2 x chr means no
Barr)

26
Type of chromatin in
mitotically dividing cell
Part of cell cycle where triNT repeats  in number
Adolescent boy with
recent h/o burning +
tingling of hands
found t have corneal
opacities +
angiokeratomas
(benign cutaneous
lesion of capillaries = small marks red/blue color 
)
Cellular component mitotic spindle
Cellular component microvilli
Cellular component cilia
Child diagnosed with an AD disease (e.g. Marfan’ s)
with no family history  – what is most likely cause?
What does CREB, SP-1, RNA polymeras, + steroid
receptor have in common
If membrane protein seen in RER but not
membrane or cytoplasm…
Infant with hyperplastic gums, lethargy,
misshapen long bones, restricted jt movements,
st
corneal clouding, parents are 1 cousins
Protein critical in formation + maintenance
 junctional complexes such as the tight junctions
between enterocytes
Action of hammerhead ribozymes
Gas that diffuses fastest across lipid membrane
Effect of a mutation AG  CG at 3’ end eukaryotic
gene intron
Listless infant with matted, sparse, pale hair , poor
growth, developmentald delay
Substrate in synthesis of carbohydrate chains that
are transferred to protein component of 
glycoproteins such as albumin
Hexosaminisae A deficiency
Capping of mRNA
Heterochromatin (closed/wrapped; euchromatin = open for active
transcription)
S (synthesis)
Fabry’s
Boy = x-linked
Microtubule
 ACTIN (+ myosin by extension)
Microtubule ( 9+2 arrangement dynein –
dynein  – think Kartagener’s)
New mutation transmitted by one parent to affected child 
 All are “ TFs
TFs” or modulators of transcription on DNA for regulation of protein
synthesis
Misfolding  ubiquination + degradation path (proteasome)
I-cell disease
Defective phosphorylation of mannose moieties  lyosomal enzymes not 
targeted to lysosome =   serum levels acid hydrolases + glycosylases
E-cadherins
Occludins = zona occlude
Desmogleins = specific junction protein in epithelial cells ( pemphigus vulgaris
w mouth ulcerations)
ulcerations )
Degrade mRNA (catalase activity) of which they have homologous sequence
(to bind)
CO2, followed by O2, then all others (e.g. nitrogen)
Abnormal splicing
AG = highly conserved (invariant))
conserved  (invariant)) spliceasome acceptor site sequence at 3’
end all introns (matches this with preceding 5’ GT (GU in RNA)
RNA) seq)
activity LYSYL OXIDASE 
= MENKE’S X-LINKED (E hler’s
hler’s Danlos type 4, ATP7A mutation)
- defect copper transport =  activity 
activity Cu-dependent enzymes with
 ceruloplasmin
ceruloplasmin levels
**DEPIGMENTED LISTLESS/KINKY HAIR is biggest tip off ”off ”
Dolichol 
TAY-SACHS
Cherry red macule without hs-megaly (N-P)
st 
Occurs immediately after  synth 1 30 NTs (e.g. before transcription even
finishes since read 5’ 3’ will be “done” earliest)
- GTP condenses w/ available 5’ diphosphate on growing RNA chain
 forms GUANINE CAP 
- Cap recognized during  protein synteshsi 
- Protects RNA from degradation
27
 cytochrome b5 reductase
Selenium deficiency
2 congenital diseases with MR + skin
hypopigmentation (not neurocutaneous)
neurocutaneous )
= IRON-dependent enzyme, aka NADH methemoglobin reductase – major
pathway that reduces methemoglobin which  forms spontaneously with
spontaneously with
oxidative stress etc.
Deficient  METHEMOGLOBINEMIA cyanosis (nl amt <1%)
2= 3+
- metHb = OXIDIZED form Hb (Ferrous Fe Ferric Fe ) = affinity O2
(curve shifts LEFT) unloading O2 at tissue (blood has O2-carrying
capacity, turns brown)
 can arise in pts with PK def d/t impaired NADH production = ESSENTIAL
COFACTOR of enzyme or in G6PD def d/t impaired NADPH cofactor 
* (Also is recessive genetic defect in chr or can occur with abnl Hb variants,
e.g. HbM or HbH  )
*remember oxidized = less electrons, reduced = more, so Fe3+ has MORE 
 positive charge/less electrons = oxidized *
CAUSES OF ACQUIRED METHEMOGLOBINEMIA
1. Exogenous oxidizing Rx + metabolites -  rate rate formation metHb
overwhelms protective systems = acute metHb levels
o benzocaine
o dapsone
o nitrates
2. ABX
a. TMP 
b. Sulfas
c. Dapsone
3. Local anesthetics
a.  Articaine
b.  prilocaine
4. ANILINE DYES ( polyurethane,
 polyurethane , indigo; normally a/w BLADDER CA)
5. Metoclopromide DA-blocking Antiemetic (D2-R antagonist with mild
5HT-3 antagonism + some anti-muscarinic effects)
a. ALSO gastric emptying in gastroparesis  good 
antiemetic for DM pts);
pts ); stimulates lactation)
lactation)
b. Parkinsonian SEs, contra in SBO
6. Chlorates, bromates
7. Nitrate ingestion (bismuth nitrate)  “ BLUE BLUE BABY SYNDROME ” in ” in
babies drinking contaminated water from FERTILIZER nitrates
a. Babies also get from dehydrration 2/2 diarrheal GE, sepsis,
topical anesthetics w/ benzocaine, prilocaine (benzocaine
also often in baby teething gels applied to gum/throat)
*Tx Methylene Blue IV (or  flavin)
 flavin) then normal saline flush (= artificial e-
acceptor for NADPH methemoglobin reductase (enzyme function at 5x nl )
 NADPH generated via
generated via HMP shunt
 RESTORES Fe3+ Fe2+ =normal/reduced O2-carrying state)
 levels
levels glutathione peroxidase
 MYOPATHY + CM
E-D type 4 , x-linked Cu-enzyme def., lyosyl oxidase  )
MENKE’S ( E-D
PKU
28
29
EMBRYO

PATHOLOGY + MISCELLANEOUS
Analine dye association URINARY BLADDER CA –CA – industrial workers (also shistosomal  parasites outside of 
US with general RFs = smoking, exposure to certain chemicals + parasiteic infection)
-  Also a/w methomologbloinemia
a/w methomologbloinemia

30
Points of exit for Trigeminal nerve
Standing Room Only:
V1 - Superior orbital fissure
V2 - foramen Rotundum
V3 - foramen Ovale
Extensor Compartment of the Arm
Beer Brachioradialis
Eating CReoLe Extensor Carpi Radialis Longus
Eating CRaB Extensor Carpi Radialis Brevis
Eating Dog Extensor Digitorum
Eating Dog's Mother Extensor Digiti Minimi
Even Cathy's Underwear Extensor Carpi Ulnaris

Great vessels- ABC'S of the aortic arch:

 Aortic arch, Brachiocephalic trunk, the left common Carotid, and the left Subclavian artery 
Thoracic duct 
The duck is between two gooses:
duck = thoracic duct 
2 gooses = azyGOUS vein and esophaGOUS
Order of structures in groin (from lateral to medial)
NAVEL
Nerve, Artery, Vein, Empty space, Lymphatics
Carpal bones
Some Lovers Try Positions That They Can't Handle
Scaphoid, Lunate, Triquetrum, Pisiform, Trapezoid, Trapezium, Capitate, Hamate.
Gluteal Muscles
Rhmye Time: "Tensor Fasciae Latae, Gluteus Med & Min...first abduct the femur, then rotate it in." 
 All other gluteal muscles are lateral rotators of the femur.
BONUS: Tensor Fasciae Latae, Gluteus Minimus, and Gluteus Maximus are all innervated by the Inferior Gluteal Nerve.
Radial nerve
"BEST" 
It innervates the Brachioradialis, Extensors, Supinator, Triceps.
Median nerve
"LOAF" 
It innervates the Lateral 2 Lumbricals, Opponens pollicis, Abductor pollicis brevis, Flexor pollicis brevis.
Brachial Plexus Lesions
"DR. CUMA" 
D - wrist Drop (is caused by...)
R - Radial nerve lesion
C - Claw hand (is caused by...)
U - Ulnar nerve lesion
M - Median nerve (lesion causes...)
 A - Ape hand 
Mitosis
People Meet And Talk, or 
PMAT 
Prophase, Metaphase, Anaphase, Telophase.

31