Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
57 Cards in this Set
- Front
- Back
|
Deficiency in orotic aciduria
|
Orotic acid phosphoribosyl transferase
or Orotidine 5'-phosphate decarboxylase |
|
|
How to differentiate Orotic aciduria from OTC deficiency?
|
OTC deficiency will have inc orotoic acid PLUS hyperammonemia
|
|
|
1st disease to be treated by experimental human gene therapy?
|
SCID
|
|
|
Transition
|
Substituting purine for purine or pyrimidine for pyrimidine
|
|
|
Transversion
|
Substitituing purine for pyrimidine
|
|
|
Stop codon
|
UAG = U Are Gone
UGA = U Go Away UAA = U Are Away |
|
|
alpha-amanatin
|
inhibits RNA Polymerase II
Causes Liver failure if ingested Found in mushrooms |
|
|
Where does amino acid bind to in tRNA?
|
Covalently attaches to 3' end
|
|
|
Nissil bodies?
|
RER in neurons
Make enzymes (ChAT) and peptide neurotransmitters |
|
|
Cells rich in SER?
|
Hepatocytes
Cells of adrenal cortex (steroid synthesis and drug/poison detox) |
|
|
Clinical features of I-cell disease
|
Coarse facial features
Clouded cornea Restricted joint movements High plasma level of lysosomal enzymes |
|
|
Chediak-Higashi Syndrome
|
Description: Microtubule polymerization defect leading to dec in phagocytosis
Clinical features: pyogenic infections, partial albinism, peripheral neuropathy Histo: Giant Lysosomal granules |
|
|
Defect in Kartagener's
|
Dynein arm defect
Clinical: Bronchiectasis, sinusitis, infertility Associated with situs inversus |
|
|
Cytoskeletal elements:
Actin and myosin |
Microvilli
Muscle contraction Adherens junction Cytokinesis |
|
|
Cytoskeletal elements:
Microtubules |
Cilia
Flagella Neurons Mitotic spindle Centrioles |
|
|
Cytoskeletal elements:
Intermediate filaments |
Glial fibrillary acid proteins (GFAP)
Vimentin Desmin Cytokeratin Neurofilaments |
|
|
Ouabain
|
Inhibits Na/K ATPase by binding to K site
|
|
|
Type I collagen
|
Bone
Skin Tendon Fascia Cornea Dentin Late wound repair |
|
|
Type II collagen
|
Cartilage
Vitreous body Nucleus pulposus |
|
|
Ehlers-Danlos syndrome
|
Hyperextensible skin
Tendency to bleed (easy bruise) Hypermobile joints Berry aneurysm Aortic dissection Organ rupture (rupture of bowel) Joint dislocation Type III collagen most common affected |
|
|
Type III collagen
|
Reticulin
Skin, blood vessels, uterus, lymph nodes, granulation tissue, fetal tissue |
|
|
Specific amino acids in elastin
|
Proline and glycine, nonglycosylated forms
|
|
|
Blotting procedures
|
SNoW DRoP
Southern = DNA Northern = RNA Western = Protein |
|
|
Dominant negative mutation
|
Heterozygote produces a nonfunctional altered protein that also prevents normal gene product from functioning
|
|
|
Locus heterogeneity
|
Mutations at different loci produce same phenotype
Examples: Marfan's syndrome MEN2B, and homocytinuria; all cuase marfanoid habitus Albinism |
|
|
Heteroplasmy
|
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease
|
|
|
Hardy-Weinberg law
|
1. Random mating
2. No mutations at gene locus 3. No selection for genotype 4. No migration |
|
|
Prader-Willi
|
Hyperphagia
Obese Hypotonia Mental retardation Hypogonadism Parental deletion of chromosome 15 |
|
|
Angelman's Syndrome
|
Mental retardation
Seizures Ataxia Inappropriate laughter Maternal deletion of chromosome 15 |
|
|
Microsatellite repeats are used for?
|
Paternity test.
Utilize PCR technology. |
|
|
X-linked dominant tip off in pedigree?
|
All daughters of affected father have disease.
|
|
|
Leber's hereditary optic neuropathy
Pathophys |
Degeneration of retinal ganglion cells and axons
|
|
|
Familial hypercholesterolemia
|
Pathophys: defective/absent LDL receptor
Elevated LDL Sever atherosclerotic dz early in life, tendon xanthomas (Achilles), corneal arcus MI before 20 may develop |
|
|
Tuberous sclerosis
|
Ash leaf macules
Cardiac rabdomyomas (100%) Renal cysts Renal angiomyolipomas Adenoma sebaceum Increased incidence of astrocytomas Cortical and retinal hamartomas Seizures Mental retardation |
|
|
Mechanism of CF
|
Abnormal folding of the CFTR channel so that it is degraded before reaching cell surface
Defect in post-translational modification |
|
|
How does N-acetylcysteine work as mucolytic?
|
Cleaves disulfide bonds within mucous glycoproteins
|
|
|
X-linked recessive disorders
|
Bruton's Agammaglobulinemia
Wiskott-Aldrich Fabry's G6PD deficiency Ocular albinism Lesch-Nyhan syndrome Duchenne's (and Becker's) MD Hunter's Syndrome Fragile X Hemophilia A and B Be Wise Fools GOLD Heeds False Hope |
|
|
Fragile X syndrome defect?
|
Affects methylation and expression of FMR1 gene
|
|
|
Trinucleotide repeats
|
Huntingtons - CAG
Friedrich's Ataxia - GAA Fragile X - CGG Myotonic Dystrophy - CTG |
|
|
Cri-du-chat
|
Microdeletion on short arm of chromsome 5
Microcephaly Moderate to severe MR Cardiac abnormalities high-pitched cry Epicantahl folds |
|
|
Purely ketogenic amino acids
|
Leucine and Lysine
|
|
|
Pantheonate
|
Essential component of CoA and fatty acid synthase
Deficiency: Alopecia, dermatitis, enteritis, adrenal insufficiency B5 |
|
|
B6 Function
|
Pyridoxine --> gets converted to pyridoxal phosphate
Function: Heme synthesis, decarboxylation reactions, transamination, gylcogen phosphorylase, cystathione synthesis, GABA synthesis, Histamine synthesis Synthesis of niacin from tryptophan |
|
|
Sx of B6 Deficiency
|
Convulsions
Peripheral neuropathy Hyperirritability Sideroblastic anemia |
|
|
Vitamin A Excess
|
Arthralgias
Alopecia Fatigue Skin changes Sore throat Teratogenic (cardiac abnormalities and cleft palate) Cerebral edema --> Goljan eats bear liver |
|
|
Riboflavin Deficiency
|
Cheliosis and Corneal vascularization
|
|
|
Things that use SAM to be created?
|
NE --> Epinepherine
Methylated nucleotide Melatonin Creatine Phosphatidylcholine |
|
|
Fxn of Biotin
|
Carboxylation Reactions (rxns which add a 1-carbon group)
1) Acetyl-CoA --> malonyl-CoA (Acetyl-CoA carboxylase) 2) Propionyl-CoA --> methylmalonyl-CoA (Propionyl-CoA carboxylase) 3) Pyruvate --> oxaloacetate (Pyruvate carboxylase) ALL have CARBOXYLASE in name |
|
|
Patient who had a dietary history of consuming raw eggs would have what deficiency and clinical findings?
|
Biotin deficiency
Dermatitis, enteritis, alopecia Can also be caused by antibiotic use |
|
|
Function of Vitamin C
|
1) Antioxidant
2) Hydroxylation of lysine and proline for collagen synthesis 3) Necessary for beta-hydroxylase in the conversion of DA --> NE 4) Keeps iron in more reduced state (facilitates absorption) |
|
|
How does sarcoid cause hypercalcemia?
|
Increased activaiton of vitamin D by epitheliod macrophages
|
|
|
Vitamin E deficiency
|
1) Increased fragility of erythrocytes (Hemolytic anemia)
2) Neurodysfunciton 3) Muscular weakness E is for erythrocytes |
|
|
Zinc deficiency
|
1) Poor wound healing (due to defect in collagenase which is required for the replacement of Type III collagen with Type I collagen)
2) Hypogonadism 3) Dec adult hair (axillary, facial, pubic) 4) Dysgeusia 5) Anosmia May predispose to alcoholic cirrhosis |
|
|
Mechanism of Disulfiram
|
Inhibits acetaldehyde dehydrogenase
|
|
|
What is a Kinase?
|
Uses ATP to add high-energy phosphate group onto substrate
|
|
|
What is a Phosphorylase
|
Adds inorganic phosphate w/o using ATP
|
|
|
Positive amino acids that make up histones
|
Lysine and Arginine
|
