Gene/ Protein/
Oncogene/
Chromosome
Disease
Things to remember
SYNUCLEIN Protein
and
PARKIN Gene
Mutation
Alpha Synucleinopathy
Associated with:
Parkinsons disease (a.k.a.
Paralysis Agitans)
e.g. Michael J.Fox, Muhammad Ali,
Freddie Roach
Four motor symptoms:
1. Unilateral Resting tremors
(pill-rolling of hands)
2. Cogwheel/Leadpipe rigidity
3. Bradykinesia/ Akinesia
4. Postural instability (stooped
posture)
PINK 1 Gene
Juvenile Onset
Parkinsons Disease
Mask-like face
Small handwriting
(micrographia),
dementia
Decreased
blinking
Hypophonia
Shuffling gait
Fall: the MC
problem in
Parkinsons
ADINOPECTIN
An anti-inflammatory
cytokine
ALK protein
Anaplastic lymphoma
kinase
t(2:5)
Anti-CENTROMERE,
Produced exclusively by
adipocytes
Enhances insulin
sensitivity, and inhibits
many steps in inflammation
Reduced in Metabolic
Syndrome, hence, causing
the insulin resistance
Bone marrow infiltration of
monoclonal B cells; (for the
null:non-T & non-B)
Smudge cells (basket cells)
w/ immunopositivity to CD30
a.k.a. Ki-1
Clusterin, another marker
that would differentiate from
Hodgkins
Have a golgi-staining pattern
GENETICS | 2
Anti-NUCLEAR Abs, and
Anti-Th RNP
form (lcSSc) of
Systemic Scleroderma
Calcinosis
Raynauds phenomenon
Esophageal dysmotility
(Scleroderma)
Sclerodactyly
Telangiectasia
Systemic Lupus
Erythematosus (SLE)
Anti-GAD Antibodies
Anti-GLIADIN
Antibody
Coeliac Sprue
Immune-mediated
progressive ataxia
Anti-gliadin IgA: Glutensensitive Idiopathic
Neuropathy
Anti-gliadin IgE: allergy,
asthma
Anti-gliadin IgG: similar to IgA
but higher levels
GENETICS | 3
Anti-GLOMERULAR
BASEMENT MEMBRANE
Antibodies
Goodpasteurs Syndrome
or the
Anti-GBM Disease
Anti-HISTONES Ab
Drug-induced Lupus
Anti-MITOCHONDRIAL
Antibody (AMA)
Anti-NUCLEAR Antibody
(ANA)
Anti-neuronal Ab
CNS lupus
Anti-nicotinic receptor
antibodies
Myasthenia Gravis
Edrophonium (Tensilon)
Test
Repetitive Nerve
Stimulation (JOLLY Test)
decremental response
Single fiber stimulation:
more sensitive than RNS
GENETICS | 4
Thymoma: the MC associated tumor
with MG
DOC: Pyridostigmine
Alt.: Neostigmine
Anti-ribosomal P Ab
Psychosis 2 to CNS
lupus
Anti-Ro Ab
Neonatal Lupus
Anti-SCL-70 Antibody
a.k.a.
Anti-topoisomerase I
Diffuse Systemic
Scleroderma
Anti-nuclear antibodies:
Anti-RNA polymerase I,
II, and III
Anti-U3 RNP
Anti-Jo 1
Inflammatory Myopathy
Antiphospholipid Ab
APAS
(anti-phospholipid
antibody syndrome)
Anti-U1 RNP
Overproduced Transforming
Growth Factor
CREST syndrome
GAVE (gastric antral vascular
ectasia) also known as
watermelon stomach
Malignant hypertension
May be caused by
Bleomycin and Taxane
Scleredema (scleredema
adultorum of Buschke)predominantly in children;
painless edematous
induration involving the face,
scalp, neck, trunk, and
proximal portions of the
extremities
Clotting predisposition
Repeated fetal loss
Thrombocytopenia
In 95-100% of patients
Has features of Sjogrens
syndrome
Has features of Scleroderma
(CREST syndrome)
Has features of SLE: malar
rash, photosensitivity, discoid
lesions, alopecia, painful oral
ulcers
Pulmonary arterial
GENETICS | 5
hypertension is the most
common cause of death
APC Gene
(Adenomatous
Polyposis Coli)
Familial Adenomatous
Polyposis
a.k.a. Gardners
syndrome
(mutations in APC gene)
Colorectal Cancer
(inactivation of APC
gene)
remember 5-FU
APOLIPOPROTEIN E4
(APOE4)
Pre-Senilin I
Pre-Senilin II
Alzheimers Disease
ATAXIN-1 Gene
Spinocerebellar ataxia
Neurofibrillary tangles
composed of abnormally
phosphorylated Tau protein
Amyloid proteins; located in
Chromosome 21 senile
plaques
(NOTE: common factor between AD
and Downs syndrome: chromosome
21)
Hippocampal atrophy
(+) Hirano bodies in the
neurons
Average duration: 8-10 years
End stage: Pt will be rigid,
mute, incontinent, bedridden
TACRINE: a medicine for AD
but not used anymore
DOC: AntiAceylcholinesterase Inhibitor
(to prevent further
breakdown of the alreadydepleted levels of Ach)
SCA Type 1: C A G repeat 6p
Hypermetric saccades
Slow saccades
Upper motor neuron
SCA Type 2: C A G repeat 12q
Diminished velocity saccades
Areflexia
ATM gene
Inactivated in Ataxia
telangiectasia
GENETICS | 6
xrays and predisposition to
lymphomas
Avidin
BACTERIAL PLASMIDs
BCL-2
(oncogene)
Follicular lymphoma
BCG Gene
Susceptibility to
Mycobacterium disease
centromeric portion of
chromosome 1
regulates directly the process of T
cell-independent macrophage
activation for antimycobacterial
function
Multiple Myeloma
GENETICS | 7
feedback signals that stop eating
behavior
BRCA1 (17q)
BRCA2 (13q)
(oncogenes)
Ovarian CA
Breast CA
Chargaffs rule
CHROMOSOME 4
(Huntingtin gene)
Huntingtons disease
CHROMOSOME 5
Cri du Chat
or Lejeunesyndrome
Familial Adenomatous
Polyposis (AFP)
CHROMOSOME 6
Refsums disease
CHROMOSOME 7
Cystic Fibrosis
CHROMOSOME 9
Friedrich Ataxia
Peroxin-7 deficiency
CFTR gene; autosomal recessive
(+) Chloride sweat test (>70mmol/L)
MC monogenetic disorder in
Caucasians
Raised transepithelial electric
potential difference: the diagnostic
biological hallmark
Can cause pancreatic insufficiency,
bronchiectasia
FXN gene encodes for the
GENETICS | 8
Ataxia, nystagmus,
kyphoscoliosis, pes cavus
(high arched foot)
Spinal cord becomes
thinner demyelination
Mental functions are not
affected
Treatment: IDEBENONE
CHROMOSOME 10
Refsums disease
CHROMOSOME 13
Patau Syndrome
Trisomy 13
47,XX,+13
Non-disjunction of chromosomes
during meiosis
Micropthalmia, microcephaly and MR
Polydactyly
Cleft lip and palate
Umbilical hernia
Heart and kidney defects
Rocker bottom feet
Retinoblastoma
CHROMOSOME 16
Alpha Thalassemia
BRCA2 oncogene
CHROMOSOME 17
Long arm:17q:
Ovarian cancer
Canavans disease
GENETICS | 9
Progressive demyelination of nerve
cells in the brain death before age
4
CHROMOSOME 18
Edwards Syndrome
Trisomy 18
47,XX,+18
CHROMOSOME 21
Downs Syndrome
Trisomy 21 (47,XY,+21)
Collagen
Hydroxylation of Glycine,
Proline into
Hydroxyproline and
Hydroxylysine
c-JUN gene
Proto-oncogene
Importance:
A growth-promoting gene
Transcription regulation
Negative regulation of DNA binding
C-KIT oncogene
Gastro-intestinal Stromal
Tumors
(GISTs)
C-MYC
(t 8;14)
Burkitts Lymphoma
CYP111 and
CYP112
Glucocorticoidremediable
Hyperaldosteronism
GENETICS | 10
synthase
CYP21A
21-Hydroxylase
deficiency
DNA HELICASE
mutation
Werner syndrome
DYNEIN defect
DYSTROPHIN
(the BIG gene)
Primary Ciliary
Dyskinesia
Duchenne Muscular
Dystrophy
Kartageners syndrome
Triad:
1. Situs invertus (dextrocardia)
2. Chronic sinusitis
3. Bronchiectasis
DYT3 Gene
XDP
Sex-linked Dystonia of
Panay
Erb-B2 (Her2/Neu)
(oncogene)
Excision endonuclease
Xeroderma pigmentosum
Premature aging
accelerated accumulation of
chromosomal damage
mimics the injury that
normally accompanies aging
MC form of childhood
muscular dystrophy
(+) Gowers Sign
Pseudohypertrophy of the calf
Frameshift mutation in 96%
New mutation in 30%
GENETICS | 11
Familial -Lipoprotein
Tangiers disease
Cause: UV radiation
Repair enzymes: DNA
polymerase, DNA ligase
FIBRILLIN-1
Marfans syndrome
Tall, lanky, long limbs,
long thin fingers
(dolichostenomelia)
With CHD: cystic
medial necrosis,
MVP, aortic
regurgitation
(+) Barlow syndrome
(midsystolic click)
subluxation of the
lens (ectopia
lentis),
Astigmatism,
Nearsightedness
FMR protein
Fragile X syndrome
GENETICS | 12
FRATAXIN Gene
(a mitochondrial
protein)
Friedreichs Ataxia
GHRELIN
Glycogen branching
enzymes
Glycogen Storage
Disease type IV:
Andersens disease
Glycogen debranching
enzymes 1,6
Glycogen Storage
Disease Type III:
Coris Disease
(Forbes disease)
and transcriptional
suppression
Affected males: progressive
neurodegeneration, severe
MR, enlarged testes
Affected female: premature
ovarian failure
expansion of an intronic G A
A triplet repeat;
areflexia, upgoing toes,
vibration and position sense
deficits, scoliosis,
cardiomyopathy, hammer
toes
Idebenone, a free-radical
scavenger, may improve
myocardial hypertrophy in
FA
iron chelators and antioxidant
drugs can increase
myocardial injury in FA
GLUTAMIC ACID
substitution by VALINE
in position 6
GRANZYME B
Missense Mutation
Hemolytic crisis - anemia
Sequestration crisis - spleen
Parvovirus B19 triggers
Aplastic crisis
Benefit from routine Flu
vaccine
Sickle shape gives resistance
to Malaria
indigenous inhabitants
of Sub-Saharan Africa
A CTL-derived serine protease
GENETICS | 13
Activates multiple caspases, thereby,
directly inducing the effector phase
of apoptosis
HER-2 oncogene
Breast carcinoma
Histidine
HLA B27
MC Seronegative Spondyloarthropathy
bamboo spine appearance
(+) Schober Test: limitation of
lumbar flexion
(+) Sacroilitis on XRay
Reiters Syndrome
Triad:
1. Inflammatory (reactive)
arthritis
2. Conjunctivitis (uveitis)
3. Urethritis (in men) or
Cervicitis (in women)
Behcets syndrome
Keratoderma blenorrhagica
most common triggers are intestinal
infections with Salmonella,
Shigella or Campylobacter and
sexually transmitted infections
with Chlamydia
trachomatis or Neisseria
gonorrheae
HLA B47
21-hydroxylase
Deficiency
HLA DR2
SLE
HLA DR3
Primary Sjogrens
syndrome
Diabetes Mellitus
type 1
SLE
Postgonococcal
arthritis
Sicca syndrome
Schirmers test
GENETICS | 14
HLA DR4
(DR 1*0401)risk
(DR 1*0404)
(DR 1*0101)
Rheumatoid Factor
in 66% of Px
Anti-Cyclic
Citrullinated Peptide
(anti-CCP)
95% specificity
Indicates poor
prognosis
Rheumatoid Arthritis
TNF-: inflammation,
fever, bone and cartilage
resoprtion
IL-1: attacks thymosites
and neutrophils
IL-1: attacks B&T cells,
and tissue cells
IL-6: differentiation and
bone resorption
Rheumatoid nodule
CAD and carotid
atherosclerosis: MC
cause of death in RA px
hMLH1 or hMSH2
HNPCC
HPC1
Prostate Cancer
HUNTINGTIN protein
Huntingtons Disease
(autosomal dominant)
JUMPING Gene
Triple C A G repeat
(trinucleotide repeat)
Chorea
Dementia, behavioral
disturbance
Caudate nucleus
Chromosome 4
Transposons;
DNA sequence that can move around
to different positions within the
genomes
GENETICS | 15
K-RAS Gene
Colorectal CA
Pancreatic CA
Lung CA
Noonan syndrome
Cardio-facio-cutaneous
syndrome
LEPTIN
Microphthalmia
associated transcription
factor (MITF) gene
Mirror images
Deafness
Albinism
Leucism
(defects in all types skin pigments,
not just melanin)
Enantiomers (in biochem)
Reed-Sternberg cells (in patho)
Motif
Helix to helix
Zinc finger
Leucine zipper
NAGA gene
Schindler disease
(a.k.a. Kanzaki disease)
-N-acetylgalactosaminidase
deficiency
I.
Type I (Infantile): more
severe, with neurological and
neuromuscular symptoms
II.
Type II (Adult): milder;
angiokeratomas, mild
intellectual impairment
III.
Type III (Intermediate):
seizures, MR, autistic-like
behavior, delayed speech
AIDS
Pancreatic CA
Li-Fraumeni Syndrome
several kinds of
CANCER are involved;
often appears at a young
GENETICS | 16
age; and, often appears
several times throughout
the life of an affected
person
PHILADELPHIA
Chromosome
(t 9;22)
Chronic Myelogenous
Leukemia
Phosphatidyl-inositol
glycan (PIGa)
Paroxysmal Nocturnal
Hemoglobinuria
PKD 1 Gene
Autosomal Dominant
Adult-onset Polycystic
Kidney Disease
a Ciliopathy:
PKD may result from mutations of
signaling and environmental sensing
proteins, or failure in intraflagellar
transport, producing the
characteristic multiple cysts
PKD 2 Gene
Autosomal Recessive
Polycystic Kidney
Disease
(presents in childhood)
Associated with:
Berry Aneurysms
MVP, Aortic reg
End Stage Renal Disease
Polycystic Ovaries/Liver
PLA2G6 gene
mutation
Infantile neuroaxonal
dystrophy
Polymerase Chain
Reaction (PCR)
Pribnow Box
GENETICS | 17
Ramachandran Plot
Rb 13q
(oncogene)
S-100 protein
S Phase
Flexner-Wintersteiner pseudorosettes
sunburst pattern on Xray
Shine-Dalgarno
Sequence
SHOX gene
(short stature
homeobox on
chromosome X)
SIRTUINS
SPECTRIN
defect
GENETICS | 18
hemolysis
(+) Howell-Jolly bodies
Anemia, hyperbilirubinemia,
splenomegaly
STK11 gene on
Chromosome 19
(mutation)
Peutz-Jeghers syndrome
(a.k.a. hereditary
intestinal polysposis
syndrome)
TATA Box
TAU Protein
Uromodulin
Protein in the kidney tubules
a.k.a. Goldberg-Hogness
Box
Taupathy
Alzheimers disease
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