GENETICS | 1

Gene/ Protein/
Oncogene/
Chromosome

Disease

Things to remember

α SYNUCLEIN Protein
and
PARKIN Gene
Mutation

Alpha Synucleinopathy

Associated with:
 Parkinson’s 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
Parkinson’s Disease





Mask-like face
Small handwriting
(micrographia),
dementia
Decreased
blinking
Hypophonia
Shuffling gait
Fall: the MC
problem in
Parkinson’s

Lack of Dopamine in pars
compacta neurons of the Substantia
Nigra
Tyrosine: the amino acid precursor of
dopamine
Levodopa + Carbidopa, Selegiline,
Rasagiline
COMT inhibitors (entacapone,
tolcapone)
Anticholinergics (trihexyphenidyl,
benztropine)
Amantadine
Haloperidol: the MC drug that causes
Parkinsonism  “Haldol shuffle”
(Antidote: Biperiden(Akineton))
Accumulation of Lewy Bodies
Multiple System Atrophy (MSA)

ADINOPECTIN

An anti-inflammatory
cytokine



ALK protein
Anaplastic lymphoma
kinase
t(2:5)

Anaplastic large cell/ null
cell lymphoma





Anti-CENTROMERE,

The limited cutaneous

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
Hodgkin’s
Have a golgi-staining pattern

CREST Syndrome (the acronym)

GENETICS | 2
Anti-NUCLEAR Abs, and
Anti-Th RNP

form (lcSSc) of
Systemic Scleroderma





Calcinosis
Raynaud’s phenomenon
Esophageal dysmotility
(Scleroderma)
Sclerodactyly
Telangiectasia

If lungs are involved: pulmonary
arterial hypertension
Anti-DsDNA
Antibody and AntiSmith antigen

Systemic Lupus
Erythematosus (SLE)

Type III hypersensitivity
reaction
 In the HLA region of
Chromosome 6
 Malar rash / Butterfly rash
 Libman- Sack’s endocarditis
mitral insuff.
 Accelerated atherosclerosis
 Myalgia, hemolytic anemia,
joint pains, fever, fatigue
 Class IV: Diffuse Proliferative
Membranous
Glomerulonephritis (with
"wire loop" appearance)
(most severe type)
 LE Bodies/ Hematoxylin
bodies
 Bibasilar reticular pattern in
the interstitial lung disease of
SLE (shrinking lung
syndrome)
Treatment:
 Conservative: NSAIDs,
Hydrochloroquine
 For Life-threatening: Systemic
glucocorticoids,
Cyclophosphamide,
Mycophenolate mofetil,
Azathioprine

Anti-GAD Antibodies

Stiff Man Syndrome

These antibodies lead to a decrease
in GABA synthesis (↓ of inhibitory
neurotransmitters)
Impaired control/regulation of motor
functions muscle stiffness and
spasm
GAD: glutamate decarboxylase
(converts glutamine into GABA)

Anti-GLIADIN
Antibody

Coeliac Sprue

Also ANAb, aENA Ag




Immune-mediated
progressive ataxia
Anti-gliadin IgA: Glutensensitive Idiopathic
Neuropathy
Anti-gliadin IgE: allergy,
asthma
Anti-gliadin IgG: similar to IgA
but higher levels

Procainamide. Chlorpromazine. Interferon inhibitor. Periportal: fibrosis & inflammation 3. ßblockers. chewing meat). Sulfasalazine. Septal: fibrous septa 4.GENETICS | 3   Tropical Sprue or Enteric Sprue Must have a “Gluten-free” diet toxic fraction of wheat. rye and also of oat abnormal flattening of the villi and inflammation of the lining of the small intestine Malabsorption will lead to vitamin deficiency (ADEK. ACE Inhibitors. Lithium. Cirrhotic: nodules. Phenytoin. garland Decreased binding of Acetylcholine to nicotinic receptors (problem with Step#3 of Chemical Transmission)  More common in females  Easy fatigability of the muscles. barley. Methyldopa. Chlorpromazine. Minocycline. PTU. TNF inhibitor MC presentation: PRURITUS Autoimmune Has 4 stages: 1. Hydrochlorothiazide. Lovastatin. Macrodantin. B12) Anti-GLOMERULAR BASEMENT MEMBRANE Antibodies Goodpasteur’s Syndrome or the Anti-GBM Disease      Anti-HISTONES Ab Drug-induced Lupus Anti-MITOCHONDRIAL Antibody (AMA) Primary Biliary Cirrhosis 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 GBM Antigen in the lungs and kidneys Crescents and linear deposits (staining pattern) Type II hypersensitivity HLADR2 Hemoptysis and hematuria INH. Hydralazine. Portal: granulomas 2. weakness of the facial muscles (esp. Simvastatin. Carbamazepine. Propafenone. weakness at the end of the day. weakness of the neck flexion  Ptosis: the MC clinical presentation (NOTE: ptosis is also present in Horner’s syndrome: Pancoast tumor) . Disopyramide.

and III Anti-U3 RNP Anti-Jo 1 Inflammatory Myopathy Antiphospholipid Ab APAS (anti-phospholipid antibody syndrome) Anti-U1 RNP Mixed Connective Tissue Disease “overlap syndrome” Overproduced Transforming Growth Factor ß CREST syndrome GAVE (gastric antral vascular ectasia) also known as “watermelon stomach” Malignant hypertension May be caused by Bleomycin and Taxane  The Anti-U3 RNP is also highly specific for SSc with musculoskeletal.a. Anti-topoisomerase I Diffuse Systemic Scleroderma Congenital heart block      Anti-nuclear antibodies: Anti-RNA polymerase I.k. scalp. and proximal portions of the extremities  Patients with insulindependent diabetes mellitus may develop digital sclerosis and contractures (prayer hand deformity) Clotting predisposition Repeated fetal loss Thrombocytopenia      In 95-100% of patients Has features of Sjogren’s syndrome Has features of Scleroderma (CREST syndrome) Has features of SLE: malar rash.GENETICS | 4 Thymoma: the MC associated tumor with MG DOC: Pyridostigmine Alt. II. painless edematous induration involving the face. gastric and pulmonary involvement  Scleredema (scleredema adultorum of Buschke)predominantly in children. trunk. neck. painful oral ulcers Pulmonary arterial . discoid lesions.: Neostigmine Anti-ribosomal P Ab Psychosis 2˚ to CNS lupus Anti-Ro Ab Neonatal Lupus Anti-SCL-70 Antibody a. photosensitivity. alopecia.

Gardner’s syndrome (mutations in APC gene) Colorectal Cancer (inactivation of APC gene) remember 5-FU APC gene is located in the long (q) arm of Chromosome 5 [5q21] Allelic loss: production of an APC protein that is abnormally short and nonfunctional substitution of the amino acid lycine for isoleucine at position 1307 in the APC protein beta-catenin. incontinent.k. prevents cell overgrowth APOLIPOPROTEIN E4 (APOE4) Pre-Senilin I Pre-Senilin II Alzheimer’s Disease ATAXIN-1 Gene Spinocerebellar ataxia  Neurofibrillary tangles composed of abnormally phosphorylated Tau protein  ß Amyloid proteins. is controlled by the APC protein.a.GENETICS | 5 hypertension is the most common cause of death APC Gene (Adenomatous Polyposis Coli) Familial Adenomatous Polyposis a. located in Chromosome 21 senile plaques (NOTE: common factor between AD and Down’s syndrome: chromosome 21)  Hippocampal atrophy  (+) Hirano bodies in the neurons  Average duration: 8-10 years  End stage: Pt will be rigid. 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 Machado Joseph Disease ATM gene Inactivated in Ataxia telangiectasia SCA Type3: C A G repeat 14q Gaze evoked nystagmus Slow saccades Upper motor neuron Encodes a kinase essential for p53 activity Characterized by hypersensitivity to . mute.

Example: exotoxin exfoliatin of Staph.GENETICS | 6 xrays and predisposition to lymphomas Avidin blocks the co-enzyme BIOTIN: Vit. dimeric. Abnormal M Proteins (a.k.H (important in the synthesis of fatty acids Acetyl CoA) BACTERIAL PLASMIDs Found in raw egg whites Small.a. it is the second major source of negative . aureus 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 BENCE JONES protein  Multiple Myeloma BJs are monoclonal Ig L chains. either κ or λ. circular pieces of selfreplicating DNA that often code for secondary characteristics such as antibiotic resistance to the host cell and toxin production.grape-like clusters MC primary bone tumor in adults Bone pain (hallmark) Stimulates Gastrin release from G cells Together with cholecystokinin. Myeloma Ig) appear as “spike” in electrophoresis Also seen in:  Waldenstrom macroglobulinemi a  Non-Hodgkin’s Lymphoma BOMBESIN Amino acid peptide as tumor marker for: Neuroblastoma Small Cell CA of Lung Retinoblastoma Gastric CA Punched out lesions: lytic lesions (Xray) Mott cells.B7/Vit. but not both High concentrations are found in urine MM is a hematologic malignancy of a clone of Ig-producing plasma cells arising in the bone marrow extremely high levels of immunoglobulins in plasma.

behavioral problems The altered huntingtin gene is believed to interfere with aerobic respiration  must resort to anaerobic respiration Glutamate receptors of Px with HD tend to be “oversensitive” to glutamate CHROMOSOME 5 Cri du Chat or Lejeune’syndrome Familial Adenomatous Polyposis (AFP) CHROMOSOME 6 Refsum’s disease CHROMOSOME 7 Cystic Fibrosis CHROMOSOME 9 Friedrich Ataxia Cry of the Cat. Autosomal Dominant Pathognomonic: atrophy of the caudate nucleus and putamen  ↓ in ACh and GABA “BOX CAR ventricles” : on CTScan (the ventricles become bigger with the loss/atrophy of the caudate) Progressive chorea. rigidity. depression. dystonia. bronchiectasia FXN gene encodes for the .epcanthal fold chromosome 5p deletion syndrome/5p minus syndrome deletion on chromosome 5 Peroxin-7 deficiency CFTR gene. seizures. cat’s eyes. 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.GENETICS | 7 feedback signals that stop eating behavior BRCA1 (17q) BRCA2 (13q) (oncogenes) Ovarian CA Breast CA Required for p53 activity Chargaff’s rule 1:1 ratio of Purines and Pyrimidines Adenine always pairs with Thymine/Uracil Guanine always pairs with Cytosine CHROMOSOME 4 (Huntingtin gene) Huntington’s disease Triple C A G repeat. “cat’s meow”. MR. Pre-senile dementia.

XX.+13 Non-disjunction of chromosomes during meiosis Micropthalmia. pes cavus (high arched foot) Spinal cord becomes thinner  demyelination Mental functions are not affected Treatment: IDEBENONE protein Frataxin. nystagmus. maternal sequence is normal Decreased alpha globin production Hemoglobin H CHROMOSOME 17 Long arm: 17q: Von Recklinghausen’s Disease Café au Lait Spots Lisch nodules on iris Neurofibromatosis I Short arm: 17p13. kyphoscoliosis. autosomal recessive CHROMOSOME 10 Refsum’s disease Phytanoyl Co-A deficiency (or Phytannic acid) CHROMOSOME 13 Patau Syndrome Trisomy 13 47. paternal sequence is normal Paternal C15 is deleted. microcephaly and MR Polydactyly Cleft lip and palate Umbilical hernia Heart and kidney defects Rocker bottom feet Retinoblastoma Leukocoria: Amaurotic Cat’s eye/white reflex in funduscopy Flexner-Wintersteiner rosettes Mutation in RB1 gene Long arm: 13q: Breast cancer CHROMOSOME 15 Happy Puppet Syndrome or Angelman Syndrome Prader-Willis Syndrome CHROMOSOME 16 Alpha Thalassemia BRCA2 oncogene Maternal C15 is deleted.1: Li Fraumeni Syndrome Tp53 Tumor Suppressor Gene Guardian of the Genome Several cancers are involved Long arm:17q: Ovarian cancer Canavan’s disease Hereditary cancer. germline mutations of BRCA tumor suppressor gene Deficiency of aspartocyclase or aminocyclase 2  levels of N-acetyl aspartate are chronically elevated .GENETICS | 8 Ataxia. an iron binding protein responsible for forming ironsulphur clusters frataxin deficiency is mitochondrial iron overload which can cause damage to many proteins Expanded G A A triple repeats.

MR.GENETICS | 9 Progressive demyelination of nerve cells in the brain  death before age 4 CHROMOSOME 18 Edwards Syndrome Trisomy 18 47. overlapping fingers Heart and renal malformations Limited hip abduction Rocker-bottom feet Flat facies. short neck Clenched fist. scurvy is due to its deficiency Hydroxylation of Glycine. Proline into Hydroxyproline and Hydroxylysine Tropocollagen: 3 polypeptide chains 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.XX. Prominent occiput. epicanthic folds. micrognathia Low set ears. oblique palpebral fissure.14) Burkitt’s Lymphoma Tumors are of mesodermal (interstitial cells of Cajal)  Bleeding or GI obstruction  IMITINAB (Gleevec) – as adjunctive therapy Epstein Barr virus “starry sky” pattern of lymph node: sheets of medium sized lymphoid cells Assoc.+18       CHROMOSOME 21 Down’s Syndrome Trisomy 21 (47. with Nasopharyngeal CA CYP11ß1 and CYP11ß2 Glucocorticoidremediable Hyperaldosteronism There is fusion between these two genes: 11-ß hydroxylase and aldosterone . simian hand creases Cong.XY.+21)       Collagen The most abundant protein in the body. heart disease Recurrent infections Acute lymphoblastic leukemia (↑risk) Premature Alzheimer’s disease Duodenal atresia VITAMIN C cross links collagen.

Salt-wasting syndrome: complete deficiency of 21hydroxylase 2. ulcerations. Gastric CA Excision endonuclease Xeroderma pigmentosum Premature aging accelerated accumulation of chromosomal damage mimics the injury that normally accompanies aging MC form of childhood muscular dystrophy (+) Gower’s Sign Pseudohypertrophy of the calf Frameshift mutation in 96% New mutation in 30% Found in Panay Island Philippines “LUBAG”  unique to adult Filipino men  pronounced atrophy of the caudate and putamen (just like Huntington’s disease) Excision endonuclease is deficient Autosomal recessive Extreme sensitivity to sunlight. Non-classic (late onset) adrenal virilism: partial 21hydroxylase deficiency  acne. Simple virilizing adrenogenital syndrome without salt wasting 3. menstrual irregularities    DYNEIN defect DYSTROPHIN (the BIG gene) Primary Ciliary Dyskinesia Duchenne Muscular Dystrophy Kartagener’s syndrome Triad: 1. Situs invertus (dextrocardia) 2. skin freckling. Ovarian.GENETICS | 10 synthase CYP21A 21-Hydroxylase deficiency DNA HELICASE mutation Werner syndrome Mutations in this gene causes defective conversion of progesterone to 11-deoxycorticosterone 1. Chronic sinusitis 3. skin cancer  Damage: nucleotide excision repair of Thymine dimers (G1) is deficient . hirsutism. Bronchiectasis      DYT3 Gene XDP Sex-linked Dystonia of Panay Erb-B2 (Her2/Neu) (oncogene) Breast.

muscle pain)  Abdominal pain. loss of pain or heat sensation. decreased strength. DNA ligase Absence of HDL(“good cholesterol”) receptor protein very low HDL in the blood  HDL cholesterol < 5 mg/dL in homozygous individuals  HDL cholesterol between 5 and 30 mg/dL in heterozygous individuals Due to a mutation in the gene called ABCA1  Clouding of cornea (also in Hurler’s syndrome)  Tonsils appear orange/yellow and enlarged  Neurological abnormalities (including peripheral neuropathy.GENETICS | 11   Familial α-Lipoprotein Tangier’s disease Cause: UV radiation Repair enzymes: DNA polymerase. long limbs. long thin fingers (dolichostenomelia)  With CHD: cystic medial necrosis. including the rectum  Enlarged liver  Enlarged spleen  Premature cardiovascular disease FIBRILLIN-1 Marfan’s syndrome Tall.3 Multiple C G G nucleotide repeats (average #: 29. aortic regurgitation (+) Barlow syndrome (midsystolic click)  subluxation of the lens (ectopia lentis). diarrhea  Appearance or yellow patches on the intestinal mucosa. Nearsightedness FMR protein Fragile X syndrome  The gene FBN1 encodes for the connective tissue protein: FIBRILLIN-1 there is also excessive Transforming growth factor ß (TGF-ß).55) Abnormal gene methylation . Astigmatism. which the fibrillin-1 normally bindsaffects the vascular smooth ms development and integrity of the ECMatrix Familial mental retardation protein Abundant in brain and testes    “fragile site” on Xq27. lanky. range: 6 . MVP.

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 .6 Glycogen Storage Disease Type III: Cori’s Disease (Forbe’s disease) and transcriptional suppression Affected males: progressive neurodegeneration. severe MR.GENETICS | 12   FRATAXIN Gene (a mitochondrial protein) Friedreich’s Ataxia     GHRELIN the hunger hormone Glycogen branching enzymes Glycogen Storage Disease type IV: Andersen’s disease Glycogen debranching enzymes 1.a. areflexia. vibration and position sense deficits. HbSS) Valine DDx: Maple syrup urine disease        GRANZYME B  Missense Mutation Hemolytic crisis .k. scoliosis. may improve myocardial hypertrophy in FA iron chelators and antioxidant drugs can increase myocardial injury in FA increases the appetite and favors the accumulation of abdominal fats produced mainly by P/D1 cells lining the fundus of the human stomach and epsilon cells of the pancreas  increased in Metabolic Syndrome Amylopectinosis Polyglucosan body disease Failure to thrive Muscle weakness Hepatomegaly Hypoglycemia Hyperlipidemia Limit dextrinosis GLUTAMIC ACID substitution by VALINE in position 6 Sickle Cell Anemia (a. upgoing toes. hammer toes Idebenone. cardiomyopathy. a free-radical scavenger. enlarged testes Affected female: premature ovarian failure expansion of an intronic G A A triplet repeat.

a. Conjunctivitis (uveitis) 3. Shigella or Campylobacter and sexually transmitted infections with Chlamydia trachomatis or Neisseria gonorrheae     HLA B47 21-hydroxylase Deficiency HLA DR2 SLE HLA DR3     Primary Sjogren’s syndrome Diabetes Mellitus type 1 SLE Postgonococcal arthritis Oral and genital ulcers Uveitis (HLA B27) Progressive optic atrophy Intracranial hypertension with papilledema Sicca syndrome Schirmer’s test .k. Marie Strumpell disease / Bechterew’s disease) MC Seronegative Spondyloarthropathy “bamboo spine appearance” (+) Schober Test: limitation of lumbar flexion (+) Sacroilitis on XRay Reiter’s Syndrome Triad: 1.GENETICS | 13 Activates multiple caspases. thereby. Urethritis (in men) or Cervicitis (in women) Behcet’s syndrome  Keratoderma blenorrhagica most common triggers are intestinal infections with Salmonella. Inflammatory (reactive) arthritis 2. such as Herceptin The buffering capacity of hemoglobin is due to this amino acid residue Ankylosing Spondylitis (a. directly inducing the effector phase of apoptosis HER-2 oncogene Breast carcinoma   Histidine HLA B27 Indicates a poor prognosis if (+) Can be treated with targeted therapy.

GENETICS | 14 HLA DR4 (DR ß1*0401)↑↑↑risk (DR ß1*0404) (DR ß1*0101) Rheumatoid Factor in 66% of Px Anti-Cyclic Citrullinated Peptide (anti-CCP) 95% specificity Indicates poor prognosis Rheumatoid Arthritis TNF-α: inflammation. 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 Huntington’s Disease (autosomal dominant) Persistent inflammatory synovitis  MC form of CHRONIC arthritis  Symmetric polyarthritis. with prevailing fibroblast-like synoviocytes Hallmarks:  Cartilaginous destruction (thinning)  Focal bone erosions  Synovial inflammation and proliferation  joint deformity Clinical features: (skeletal)  Swan neck deformity  Boutonniere deformity  Z Line deformity  Hammer Toe  Mallet toe (resists straightening)  Claw toe (spares the big toe)  Baker’s cyst (knee to popliteal fossa inflammation) A mutation in any of these two genes initiates defective repair of DNA mismatching. bone and cartilage resoprtion IL-1α: attacks thymosites and neutrophils IL-1ß: attacks B&T cells. resulting in Hereditary Non-polyposis Colorectal Cancer The susceptibility locus for prostate cancer on chromosome 1 (1 in 500 cases)      JUMPING Gene Triple C A G repeat (trinucleotide repeat) Chorea Dementia. DNA sequence that can move around to different positions within the genomes . behavioral disturbance Caudate nucleus Chromosome 4 Transposons. fever. s/sx >6weeks  Early morning stiffness >one hour SMOKING: most imp’t environmental factor related to Pannus formation: thickened cellular membrane of granulation reactive to fibrovascular tissue. results in joint damage  Systemic disease with extraarticular mx (>3joints).

delayed speech NRAM Genetic protein (Natural Resistance Associated Macrophage) P-16 AIDS Mycobacterium Avium Intracellulare ("Lady Windermere syndrome") collarstud abscess Pancreatic CA   P-53 Tumor Suppressor Gene Li-Fraumeni Syndrome several kinds of CANCER are involved. mild intellectual impairment III. Type II (Adult): milder.GENETICS | 15 K-RAS Gene Colorectal CA Pancreatic CA Lung CA Noonan syndrome Cardio-facio-cutaneous syndrome LEPTIN Microphthalmia associated transcription factor (MITF) gene MC site: Sigmoid colon An oncogene that is a G-PROTEIN A molecular on/of switch Inhibits appetite by counteracting the effects of neuropeptide Y: a potent feeding stimulant secreted by the cells in the gut and in the hypothalamus  Reduced in Metabolic Syndrome Tietz’ syndrome 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 Sequence pattern of nucleotides in a DNA sequence or amino acids in a protein NAGA gene Schindler disease (a. Type I (Infantile): more severe. often appears at a young Very specific for pancreatic CA The most frequently inactivated tumor suppressor gene Guardian of the Genome  TP53 assists in repair or destruction of "bad" or damaged DNA . MR. with neurological and neuromuscular symptoms II. angiokeratomas.k. Kanzaki disease) α-N-acetylgalactosaminidase deficiency I.a. autistic-like behavior. Type III (Intermediate): seizures.

k.GENETICS | 16 age. producing the characteristic multiple cysts PKD 2 Gene Autosomal Recessive Polycystic Kidney Disease (presents in childhood) Associated with:  Berry Aneurysms  MVP. strabismus. often appears several times throughout the life of an affected person PHILADELPHIA Chromosome (t 9. or failure in intraflagellar transport.a. optic nerve atrophy Hearing loss Dementia Low levels of A2 Phopholipase Enzymatic method for the repeated copying (and thus AMPLIFICATION) of the two strands of DNA that make up a particular gene sequence a. gradually becomes spastic Nystagmus. and. Aortic reg  End Stage Renal Disease  Polycystic Ovaries/Liver PLA2G6 gene mutation Infantile neuroaxonal dystrophy       Polymerase Chain Reaction (PCR) Pribnow Box No s/sx at birth. but begins at around 6-18 months Initial hypotonia.22) Chronic Myelogenous Leukemia   Prevents a cell with damaged DNA from entering the S phase Inactivation or deletion of p53 is associated with Li-Fraumeni syndrome Abl (Abelson): a leukemia virus that carries a similar protein DOC for CML: Busulfan Phosphatidyl-inositol glycan (PIGa) Paroxysmal Nocturnal Hemoglobinuria Hemolytic anemia caused by an ACQUIRED intrinsic defect in the cell membrane Acquired somatic mutations in PIGa PKD 1 Gene Autosomal Dominant Adult-onset Polycystic Kidney Disease a “Ciliopathy”: PKD may result from mutations of signaling and environmental sensing proteins. Pribnow-Schaller Box   Sequence TATAAT of six nucleotides (thymineadenine-thymine) that is an essential part of a promoter site on DNA for transcription to occur in bacteria Involved in the initial recognition of the promoter by RNA polymerase .

X: XO Monosomy (absence of the Barr body) A family of proteins with histone deacetylase activity  Increase the production of proteins that reduce apoptosis. increase metabolic activity and insulin sensitivity and reduce ROS Hereditary spherocytosis red blood cells that are sphereshaped. stimulate protein folding. α-helix and ßsheet. fall within the lower and upper left-hand quadrants Retinoblastoma Osteosarcoma S-100 protein As tumor marker for:  Malignant Melanoma  Malignant Peripheral Nerve Sheath tumors  Schwannoma  Histiocytoma  Clear Cell Sarcoma S Phase Flexner-Wintersteiner pseudorosettes “sunburst pattern” on Xray mc: Superficial Spreading type or the nested pattern Dysplastic nevus: precursor of MMelanoma The phase is the cell cycle when DNA undergoes replication  Shine-Dalgarno Sequence     SHOX gene (short stature homeobox on chromosome X) Short stature in Turner syndrome SIRTUINS SPECTRIN defect Ribosomal binding site in the mRNA generally located upstream of the start codon/ initiating codon: AUG Helps recruit the ribosomes to the mRNA to initiate protein synthesis by aligning it with the start codon Found in prokaryotes Core DNA sequence: 5’TATAAA3’ Kozak Sequence: the eukaryotic equivalent of Shine Dalgarno sequence Loss of both copies of the SHOX  45. therefore more prone to .GENETICS | 17 Ramachandran Plot Rb 13q (oncogene) The angles of the two most common types of secondary structure.

a. hyperbilirubinemia.k. Goldberg-Hogness Box Taupathy Alzheimer’s disease Watson and Crick model of DNA Benign hamartomatous polyps of the GIT  Hyperpigmented macules around the lips and oral mucosa Oral findings are same with Addison’s disease and McCune Albright 34A: one complete turn or helix pitch of the Watson and Crick Helicase: the enzyme that will unwind the DNA helix A DNA sequence (cis regulatory element) found in the promoter region of genes in eukaryotes Hyperphosphorylation will lead to self-assembly of tangles of paired helical filaments and straight filaments Decribes the DNA as following:  Base pairing  Helical  Right-handed  Complimentary strands  Anti-parallel strands  Sugar-phosphate backbone outside and bases stacked inside  Twisted ladder structure .k.a.GENETICS | 18 hemolysis  (+) Howell-Jolly bodies Anemia. splenomegaly STK11 gene on Chromosome 19 (mutation) Peutz-Jeghers syndrome (a. hereditary intestinal polysposis syndrome) Tamm Horsfall protein TATA Box TAU Protein Uromodulin Protein in the kidney tubules a.

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