Exit stuff-Biochem Flashcards
Digoxin binds to the Na/K pump What drug binds to the K channels, with the same intention as Digoxin?
Ouabain
What type of mutation only in egg or sperm cells?
Gonadal Mosaicism
What is polyneutritis, symmetrical muscle wasting? What is high-output cardiac failure (dilated cardiomyopathy), edema?
Dry beriberi Wet beriberi
What deficiency has acrodermatitis enteropathica?
Zinc
If I ingest a crazy amount of egg whites, what vitamin goes bad?
Vitamin B7
What do microfilaments move with?
Muscle contraction –> actin, microvilli
Who is calcium dependent and independent? Cadherin and Selectin Integrins
Cadherin and Selectin –> calcium ion dependent Integrins –> calcium independent
What do intermediate filaments help with?
Maintain cell structure
What does Dynein cause microtubule transport direction? What does Kinesin move the microtubule?
Dynein –> retrograde Kinesin –> anterograde
What peroxisomal disease has scaly skin, ataxia, cataracts/night blindess, shortening of 4th toe, and epiphyseal dysplasia? Bad alpha oxidation
Refsum Disease
In the world of antibiotics: What causes the irreversible inhibition of initiation complex through binding of the 30S subunit, causes misreading of mRNA, blocks translocation? Am I bacteriostatic or bactericidal?
Aminoglycoside Bacteriocidal No anaerobic coverage here
What term describes female carriers variably affected depending on the pattern of inactivation of the X chromosome carrying the mutant vs normal gene?
Lyonization
Incomplete penetrance is what?
Not all individuals with a mutant genotype show a mutant phenotype
What three amino acids Elastin high in?
nonhydroxylated Proline, Glycine, and Lysine residues, remember collagen has hydroxylated amino acids
Breast fed only infants need what kind of supplementation?
vitamin D
What are the magic numbers for Robertsonian Translocation?
13, 14, 15, 21, and 22
Protein malnutrition with edema? Malnutrition not causing edema?
Kwashiorkor Marasmus
What inhibits RNA polymerase in both prokaryotes and eukaryotes?
Actinomycin D
What is another name for topoisomerase II?
Gyrase
Leber’s Hereditary and Optic Neutropathy are what type of Genetic issues?
Heteroplasmy –> normal and mutated mitochondria
What repeat is Myotonic type 1?
What are a few of the signs?
What chromosome is this?
CTG trinucleotide repeat
Cataracts, Toupee, and Gonadal atrophy
Chromosome 19
If the cross-linking of collagen step goes bad, what diseases can be caused?
Menkes, Ehlers-Danlos Syndrome
Collagen Type 1 is what? Collagen Type 2 is what?
Bone, skin, tendon, fascia Cartilage
What is one gene contributes to multiple phenotypic effects?
Pleiotropy
Fragile X has what repeats? Friedreich ataxia has what repeats?
CGG GAA
What drug is an anti-emetic agent that blocks the D2 receptor in the CTZ zone, not metochloperamide?
Prochlorperazine
What is confusion, ophthalmoplegia, ataxia? Think vitamin deficiency
B1 Wernicke-Korsakoff Syndrome
What peroxisomal disease has hypotonia, seizures, hepatomegaly, early death? The bad PEX gene
Zellweger Syndrome
What type of mutation arises from mitotic errors after fertilization and propagates through multiple tissues or organs? P.S. Relatives and Parents do not have it
Somatic Mosaicism
What does Wegner Disease have that Microscopic polyangiitis doesnt have?
granulomas and nasopharyngeal involvement
Immunoglobulin A has abdominal pain, arthralgais, and palpable purpura on buttocks/legs: What GI condition is it associated with?
Intussusception
Cilia have 9 doublet + 2 singlet arrangement no what in the middle?
No central Microtubules
What do microtubules help with?
Clilia, flagella, mitotic spindle, axonal trafficking, centrioles
Second trimesters quad screen shows what things are elevated for trisomy 21?
low alpha fetoprotein, high B-HCG, low Estriol, and High inhibin A
Vasculitus: when we are a small vessel vasculitis, and come back positive for HLA-51, what two diseases could they be?
HSV or Parvovirus Behcet Syndrome
A Collagen Type 3 problem is what? A Collagen Type 4 problem is what?
Ehlers-Danlos syndrome Alport syndrome –> targeted by auto-antibodies in GoodPasture’s syndrome
What gene modification system can manipulate genes at specific development points?
Cre-lox System
In the world of antibiotics: What blocks peptidyltransferase at 50S ribosomal subunit? Am I bacteriostatic or bactericidal?
Chloramphenicol Bacteriostatic Look out for Gray baby
(Heterodisomy) Heterozygous indicates what kind of error? Isodisomy (homozygous) indicates what kind of error?
Both of these topics are uniparental disomy, genetic material came from only one parent Meiosis I –> error Meiosis II –> post zygotic chromosomal duplication
What vasculitus shows up with heavy smokers?
Buerger Disease (Thromboangiitis)
Uniparental disomy can be seen or is a cause for concern when what happens?
A child gets an autosomal recessive disease and only one parent is the carrier
What do integrins bind too?
bind to fibronectin and laminin
If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true with oncogenes. What genetic principle is this?
Loss of Heterozygosity
Collagen Type 3 is what? Collagen Type 4 is what?
Reticulin –> skin and blood vessels Basement membrane –> basal lamina, lens
N-oligosaccharides on what are modified via Golgi? O-oligosaccharides on what are modified via in the Golgi?
Asparagine Serine and Threonine
Variable Expressivity is what?
Patients with the same genotype have varying phenotypes
Dominant negative mutation is what?
exerts a dominant effect, a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
In the world of antibiotics: What inhibits binding of the 50S subunit, prevents formation of the initiation complex? Am I bacteriostatic or bactericidal?
Linezolid Variable (first aid)
What disease is mixed cryoglobulinemia associated with? Palpable purpura, weakness, arthralgias
Hep C
In the world of antibiotics: What inhibits protein synthesis by blocking translocation; binds to the 23S rRNA of the 50S ribosomal subunit? Am I bacteriostatic of bactericidal?
Macrolides Bacteriostatic
Histones are rich in what two amino acids?
Lysine and Argine
When collagen becomes Gly-X-Y? what is X and Y
Proline or Lysine
Locus Heterogeneity is what?
Mutations at different loci can produce a similar phenotype Example is albinism
Tendency for certain alleles at 2 linked loci to occur together more or less often that expected by chance. Measured in a population, no in a family, and often varies in different populations. What is this?
Linkage disequilibrium
DDX Duchenne and Becker?
Duchenne: onset at 5 years old, frameshift mutation, severe Becker: onset at 15 years old, no frameshift mutation, not as severe
What is different mutations in the same locus produce the same phenotype?
Allelic Heterogeneity Beta Thalassemia
SMA has an issue on what chromosome?
Chromosome 5
What is the immediate drug for iron?
Deferoxamine
What is the immediate drug for lead/ mercury?
What is a glaring symptom for mercury poisoning?
Dimercaprol
Painful swallowing and Gingival inflammation
