Card Set Information
Amino acids necessary for purine synthesis:
GAG: Glycine, Aspartate, Glutamine
megaloblastic anemia, no hyperammonemia
Inhibit DNA gyrase
DNA polymerase III
Makes leading strand (5'-->3') with 3'-->5' exonuclease activity
DNA polymerase I
Makes lagging strand by excising RNA primer with 5'-->3' exonuclease activity
Mutation in nucleotide excision repair and thus preventing repair of thymidine dimers cause:
xeroderma pigmentosum - dry skin with melanoma and other cancers
DNA mismatch repair is mutated in:
Hereditary nonpolyposis colorectal cancer (HNPCC)
mRNA stop codons
UGA, UAA, UAG
Found in death cap mushrooms. Inhibits RNA polymerase II. RNA polymerase opens DNA at promoter site. Causes liver failure if ingested.
Antibodies to spliceosomal snRNPs are found in patients with:
Where is the amino acid bound on the tRNA?
What drug prevents attachment of the aminoacyl-tRNA?
Aminoglycosides inhibit protein synthesis by?
Inhibiting the formation of the initation complex and causing misreading of mRNA
What inhibits 50S peptidyltransferase?
Mechanism of action for Clindamycin:
binds 50S, blocking translocation
Addition of mannose-6-phosphate does what?
Target lysosomal proteins to the lysosome.
Patient presents with coarse facial features, clouded corneas, restricted joint movement, and high plasma lvels of lysosomal enzymes - what condition does he have and why?
I-cell disease (inclusion cell disease) - failure to add mannose-6-phosphate to lysosomal proteins.
Dynein transports in what direction?
Retrograde to microtubule (+ --> - )
Kinesin moves in what direction?
Anterograde to microtubule (- --> +)
Patient presents with recurrent pyogenic infections, partial albinism, and peripheral neuropathy. What condition does she have?
Chediak-Higashi syndrome - microtuble polymerization defect resulting in decrease phagocytosis by macrophages.
What are all the drugs that act on microtubules?
Mebendazole, griseofulvin, vincristine, paclitaxel, colchicine
Patient presents with inferitility, bronchiectasis, recurent sinusitis, and situs inversus. What does he have?
Kartagener's syndrome - immotile cilia due to a dynein arm defect.
Vimentin is found in?
Desmin is found in?
Cytokeratin is found in?
Glial fibrillary acid proteins (GFAP) is found in?
Bone - collagen type?
Skin - collagen type?
Type 1, type 3
Tendon - collagen type?
dentin - collagen type?
fascia - collagen type?
cornea - collage type?
late wound repair - collagen type?
cartilage - collagen type?
vitreous body - collagen type?
nucleus pulposus - collagen type?
blood vessels - collagen type?
uterus - collagen type?
fetal tissue - collagen type?
granulation tissue - collagen type?
basement membrane or basal lamina - collagen type?
Vitamin C is required for collagen synthesis for?
hydroxylation of proline and serine
in wound healing, what metal is necessary for the conversion of Type 3 collagen to Type 1?
In wound healing, what lysyl oxidase needs what cofactor to cross-link collagen and elastic tissue?
What type of collage is most affected by Ehlers-Danlos syndrome?
Joint dislocation, berry aneurysm, and organ rupture is associated with what condition?
Patients with mutliple fractures and blue sclerae are also predisposed to?
hearing loss and dental imperfections
Progressive nephritis and deafness with ocular disturbances is found in children with?
Alport's syndrome. Abnormal Type IV collagen. XR
Patients with arachnodactyly, ectopia lentis, and aortic issues have a defect in what protein?
fibrillin (Marfan's syndrome)
What inhibits elastase, which breaks down elastin?
When one gene has greater than 1 effect on an individual's phenotype, it's call:
Pleiotropy. Ex: PKU
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 called:
loss of heterozygosity. Ex: retinoblastoma
Marfanoid habitus is characterized by:
long limbs, arachnodactyly, hyperlaxity
When mutations at different loci can produce the same phenotype, it is called:
Locus heterogeneity. Ex: Marfan's Syndrome, MEN 2B, homocystinuria all cause marfanoid habitus.
When offspring received 2 copies of a chromosome from 1 parent and no copies from the other parent, this is called:
Patient presents with mental retardation, hyperphagia, obesity, hypogonadism, and hypotonia - what condition does this patient have?
Patient presents with seizures, ataxia, inappropriate laughter, and mental retardation - what does this patient have?
Hypophosphatemic rickets or vitamin D resistant rickets has what kind of inheritance pattern?
Leber's hereditary optic neuropathy shows what kind of inheritance pattern?
Patient presents with acute loss of central vision - she has?
Leber's hereditary optic neuropathy - degeneration of retinal ganglion cells and axons.
N-acetylcysteine can be used in what two conditions?
Cystic Fibrosis - loosen mucous plugs by cleaving disulfide bonds within mucous glycoproteins)
What kind of mutation is found in Duchenne's MD?
Frame-shift mutation that causes a deletion of the dystrophin gene. X-linked Recessive
What defect is found in Fragile X syndrome?
X-linked defect in methylation and expression of the FMR1 gene. Associated with chromosomal breakage.
CTG repeats are found in?
CAG repeats are found in?
CGG repeats are found in?
Fragile X syndrome
GAA repeats are found in?
Congenital microdeletion of long arm of chromosome 7 results in?
Patient presents with distinctive "elfin" facies, mental retardation, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, and cardiovascular problems. She has?
Deletion of chromosome 22q11 results in what two conditions?
DiGeorge syndrome & Velocardiofacial syndrome
Thymic, parathyroid and cardiac defects can be found in a patient with?
Palate, facial and cardiac defects can be found in a patient with?
Dermatitis, glossitis, and diarrhea can be cound in patients with?
Vitamin B complex deficiencies
Dermatis, dementia, and diarrhea can be found in patients with a deficiency of?
Vitamin B3 - Niacin
Night blindness, dry eyes, and corneal softening is associated with what deficiency?
Nausea, abdominal pain, diarrhea with increased frequency of calcium oxalate kidney stones is associated with and overdose of?
Patients presenting with arthralgias, fatigue, headaches, skin changes, sore throat, and loss of hair has an overdose of?
Cleft palate and cardiac abnormalies are found with what vitamin toxicity?
Confusion, ophthalmoplegia, ataxia + memory loss, confabulation, personality change is associated with?
Wernicke-Korsakoff, vitamin B1 deficiency, often due to malnutrition in alcoholics
Polyneuritis and symmetrical muscle wasting is characteristic of?
Dry beriberi - Vitamin B1 deficiency
Dilated cardiomyopathy and edema is characteristic of?
Wet beriberi - vitamin B1 deficiency
Hypercalcemia, hypercalciuria, loss of appetite, and stupor can be seen in patients with an overdose of?
Vitamin D. Seen in sarcoidosis due to increase activation of vitamin D by epithelioid macrophages.
Malnutrition, pitting edema, anemia, fatty liver, swollen belly (ascites) can be seen in a child with?
Kwashiorkor - protein deficient
Growth retardation, muscle wasting, and anemia can be seen in a child with?
Marasmus - protein & calorie deficiency
Where in the cell is the site of synthesis and assembly of ribosomal components?