Biochemistry

Amino acids necessary for purine synthesis:

orotic aciduria

fluoroquinolones

DNA polymerase III

DNA polymerase I

Mutation in nucleotide excision repair and thus preventing repair of thymidine dimers cause:

DNA mismatch repair is mutated in:

mRNA stop codons

alpha-amanitin

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?

What inhibits 50S peptidyltransferase?

Mechanism of action for Clindamycin:

Addition of mannose-6-phosphate does what?

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?

Dynein transports in what direction?

Kinesin moves in what direction?

Patient presents with recurrent pyogenic infections, partial albinism, and peripheral neuropathy. What condition does she have?

What are all the drugs that act on microtubules?

Patient presents with inferitility, bronchiectasis, recurent sinusitis, and situs inversus. What does he have?

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?

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?

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?

Progressive nephritis and deafness with ocular disturbances is found in children with?

Patients with arachnodactyly, ectopia lentis, and aortic issues have a defect in what protein?

What inhibits elastase, which breaks down elastin?

Southern

Northern

Western

When one gene has greater than 1 effect on an individual's phenotype, it's call:

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:

Marfanoid habitus is characterized by:

When mutations at different loci can produce the same phenotype, it is called:

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?

N-acetylcysteine can be used in what two conditions?

What kind of mutation is found in Duchenne's MD?

What defect is found in Fragile X syndrome?

CTG repeats are found in?

CAG repeats are found in?

CGG repeats are found in?

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?

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?

Dermatis, dementia, and diarrhea can be found in patients with a deficiency of?

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?

Polyneuritis and symmetrical muscle wasting is characteristic of?

Dilated cardiomyopathy and edema is characteristic of?

Hypercalcemia, hypercalciuria, loss of appetite, and stupor can be seen in patients with an overdose of?

Malnutrition, pitting edema, anemia, fatty liver, swollen belly (ascites) can be seen in a child with?

Growth retardation, muscle wasting, and anemia can be seen in a child with?

Where in the cell is the site of synthesis and assembly of ribosomal components?