The flashcards below were created by user phoenix20 on FreezingBlue Flashcards.

  1. Where does RNA processing occur in eukaryotes?
    RNA processing occurs in the nucleus.
  2. Which is the largest type of RNA?
    mRNA (massive)
  3. Which is the most abundant type of RNA?
    rRNA (rampant)
  4. Which is the smallest type of RNA?
    tRNA (tiny)
  5. Which nucleotide position inthe codon has room for 'wobble' ?
    Codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid
  6. How do you do a Northern Blot?
    Electrophorese RNA on a gel transfer to a filter expose filter to a labeled DNA probe visualize the DNA probe annealed to the desired RNA
  7. How do you do a Southern Blot?
    Electrophorese DNA on a gel transfer to a filter and denature the DNA expose to a labeled DNA probe visualize probe annealed to desired DNA fragment
  8. How do you do a Southwestern blot?
    Separate protein by electrophoresis transfer to a filter expose to a labeled DNA probe visualize DNA bound to desired protein
  9. How do you do a Western Blot?
    Separate protein by electrophoresis transfer to a filter expose to a labeled antibody visualize Ab bound to desired protein
  10. How do you do PCR? (4 steps)
    1. Heat DNA to denature. 2.Cool DNA and let the primers aneal. 3. Heat-stable polymerase replicates DNA following each premer 4.Repeat
  11. What are some genetic diseases detectable by PCR?
    SCID, Lesh-Nyhan, CF,familial hypercholesterolemia retinoblastoma, sickle cell, B-thalassemia,hemophilia A and B, von Willebrand's dz,lysosomal dz, and glycogen stroage dz
  12. What gene is involved in cystic fibrosis?
  13. What gene is involved in familial hypercholesterolemia?
  14. What gene is involved in Lesh-Nyhan syndrome?
  15. What gene is involved in retinoblastoma?
  16. What gene is involved in Sickle cell and ?-thal?
    globin gene
  17. What is an ELISA (enzymelinke immunosorbant assay)?
    Rapid lab test in which an antibody or an antigen(usually collected from a patient) is exposed to an Agor Ab liked to to an enzyme.A positive test results in a Ag-Ab match and is usually indicated by a color change
  18. What is PCR?
    Lab procedure used to synthsize many copies of a desired fragment of DNA
  19. Von Geirke's disease is a result of?
    Glucose-6-phosphatase deficiency; also known as Type I Glycogen Storage disease
  20. A build up of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells and tissues is found in what disease
    Niemann-Pick disease
  21. A child is born with multiple fractures and blue sclera what is the diagnosis
    Osteogenesis imperfecta;disease of abnormal collagen synthesis resulting in fractures and translucent Conn tiss over chorioid causing the blue sclera
  22. A congenital deficiency of tyrosinase would lead to
    Albinism, can't synthesize melanin from tyrosine
  23. A patient presents with cataracts,hepatosplenomegaly, and mental retardation, what is the Dx?
  24. A patient presents with corneal clouding and mental retardation that is, based onfamily history, inherited in an Autsomal recessive pattern,you impress your intern with a Dx of
    Hurler's syndrome
  25. A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints youastutely Dx them with
    Ehlers-Danlos syndrome
  26. Absence of Galactosylceramide Beta-galactosidase leads to the build up of what compound in what disease
    accumulation of galactocerebroside in the brain; Krabbe's disease
  27. Absence of hexosaminidase Are sults in the acumulation of what molecule that is characteristic of what disease
    GM2-ganglioside accumulation; Tay-Sachs disease
  28. albinism increase risk of developing what
    Skin cancer
  29. Autosomal dominant defects will effect what members of a family
    male and female
  30. Autosomal recessive disorders often result in what kind of defect/deficiencie?
    enzyme deficiencies
  31. Autosomal recessive disorders usually effect how many generations in a family?
    usually only one generation
  32. Bloom's syndrome is characterized by sensitivity to what as a result of
    sensitivity to radiation as a result of a DNA repair defect
  33. Creatine and Urea are both made from?
  34. Defects in structural genesoften follow what pattern of inheritance?
    Autosomal dominant
  35. Defiency of arylsulfatase A results in the accumulation of what molecule where
    sulfatide in the brain, kidney,liver, and peripherla nerves.Characteristic of Metachromatic Leukodystrophy
  36. define genetic imprinting
    when differences in phenotype depend on whether the mutation is of paternal or maternal origin
  37. define incomplete penetrance
    when not all individuals with a mutant genotype show the mutant phenotype
  38. define Linkage Disequilibrium
    the tendency for certain alleles at two linked loci to occur together more often thatn expected by chance, as measured in a population
  39. define pleiotropy
    one gene has more than one effect on an individual's phenotype, autosomal dominant defects are often pleiotropic
  40. Define variable expression
    nature and severity of the phenotype varies from one individual to another
  41. Fanconi's anemia is caused by what type of agents
    cross-linking agents
  42. Ganglioside is made up of what
    Ceramide + oligosacharide + sialic acid
  43. Gaucher's disease is caused by a deficiency of
  44. Glucocerebroside accumulation in the brain,liver, spleen, and bone marrow are characteristic of
    Gaucher's disease
  45. Hglycine is used to make what important compound
    Porphyrin which is then used to make Heme
  46. Histamine is synthesized form what compound
  47. How does adenosine deaminase defiency cause SCID
    Purine salvage pathway. ADA normal converts adenosine to inosine without it ATP & dATP build up inhibiting ribonucleotide reductase which prevents DNA synthesis lowering lymphocyte production
  48. How is Lesch-Nyhan syndrome inheritied and what is the result and symptoms
    X-linked recessive; increasein uric acid production. Retardation, self mutalation,aggression, hyperuricemia,gout, and choreathetosis
  49. Hunter's syndrome is characterised by what biochemical problem and how is it inherited
    deficiency of iduronate sulfatase; X-linked recessive mild form of Hurler's
  50. In ataxia-telangiectasia DNA damage caused by what source cannot be repaired
Card Set:
2013-10-27 18:46:08

Show Answers: