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  1. in G6PD deficiency the decrease in NADPH can lead to _____ if exposed to _____
    hemolytic anemia;oxidizing agents ( fava beans,sulfonamides, primaquine)and antituberculosis
  2. In PKU what builds up andwhat can be found in theurine
    phenyalanine builds up eleading to phenylketones in the urine
  3. In PKU, what amino acid becomes essential
  4. in the Hardy-Weinbergequation, what are the p and q and what is 2pq
    p and q are each separatealleles; 2pq = heterozygote
  5. no male to male transmission is characteristic of what type of genetic disorders?
    X-linked recessive
  6. Pompe's disease is caused by a defect in?
    lysosomal alpha-1,4-glucosidase defiency
  7. Sickle cell anemia is caused by what defect and what is it's prevalence
    AR single missense mutation in the beta globin; 1:400 blacks
  8. Sickle cell anemia patient soften present with
    recurrent painful crisis and increased susceptibility to infections
  9. Skin sensitivity to UV light secondary to a DNA repair defect is characteristic of what?
    xeroderma pigmentosum
  10. Sphingosine + fatty acid yields
  11. the COL1A gene mutation is associated with what disease and what type of mutation is this
    Osteogenesis imperfecta;dominant negitive mutation
  12. The main defect in Ataxia telangiectasi is a ___
    DNA repair defect
  13. The most common form of Osteogenesis imperfecta has what genetic problem and inheritance
    abnormal Collagen Type Isynthesis;Autosomaldominant
  14. the transporter for what amino acids is defective in cystinuria
    COLA: Cys,Ornithine, Lysine and Arginine
  15. Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side?
    dimers are on same side
  16. Tryptophan can be used tomake what three chemicals
    Niacin, 'Serotonin, melatonin
  17. Type III Glycogen storage disease is a defiency of ?
    deficiency of debranching enzyme alpha-1,6-glucosidase
  18. What is the cause Tx and symptoms of Lactase intolerance?
    Lactase defiency, avoid diary products or add lactse pills to diet symptoms bloating,cramps, osmotic diarrhea
  19. What % of kids born to father with mitochondrial myopathie will be effected
    none, mitochondrial myopathies are inherited from mitochondria which is only inherited from the mother
  20. What are the clinical signs of Krabbe's disease
    optic atrophy, spasticity, early death
  21. What are the components of Cerebroside
    Ceramide + glucose/galactose
  22. What are the components of Sphingomyelin
    Ceramide +phosphorylcholine
  23. What are the components of sphingosine
    serine + palmitate
  24. What are the findings and treatment of pyruvate dehydrogenase
    neurologic defects; increase intake of ketogenic nutrients
  25. What are the findings in McArdles's disease and what is the problem
    increased glycogen in skeletal muscle due to a Glycogen phosphorylase defiency strenuous exercise cause myoglobinuria and painful cramps
  26. What are the findings in PKU and what is the treatment
    Mental retardation, fair skin,eczema, musty body odor Tx. Decreasee phenylalanin(nutrasweet) and increase tyrosine
  27. What are the findings in Pompe's disease and what is it alternate name
    Cardiomegaly and systemic findings, leading to early death. Pompe's trashes the Pump. (Heart, Liver andmuscle) Type II Glycogenstorage disease
  28. What are the findings in Von Gierke's disease
    severe fasting hypoglycemia,increased glycogen in the liver
  29. What are the four assumptions of the Hardy-Weinberg equilibrium
    1.There is no mutation occuring at the locus 2. There is no selection for any of the geno types at the locus 3.Random mating 4. nomigration in or out
  30. What are the purely ketogneic amino acids
    lysine and leucine
  31. What are the signs and symptoms of essential fructosuria
    asymptomatic, begin,Fructose appears in blood and urine
  32. what are the signs and symptoms of Homocystinuria
    Homocysteine accumulates in urine and cystine becomes essential Methionine and it's metabolites build up in blood Mental retardation,osteoporosis, dislocation of the lens
  33. What are the symptoms of Alkaptonuria
    Dark Urine from alkapton bodies; also connective tissue is dark, may have arthralgias. Bengin disease
  34. What are the symptoms of Fructose intolerance
    hypoglycmeia, jaundice,cirrhosis
  35. What are the symptoms of Maple syrup Urine disease
    CNS defects, mental retardation and death. Urine smells like maple syrup
  36. What biological chemicals are derived form phenylalanine
    tyrosine, thyroxine Dopadopamine NE, Epinephrine and Melanin
  37. What causes Essential Fructosuria
    defect in fructokinase
  38. What causes Lesch-Nyhansyndrome
    Absence of HGPRTase,(normally converts hypoxanthine to IMP and guanine to GMP) Lacks Nucleotide Salvage (LNS)-purines
  39. What do melanin and Norepinephrine have in common
    both derived directly from dopamine Phenylalanine to tyrosine to Dopa to Dopamin
  40. What does the term 'loss ofheterozygosity' mean
    when one allele of an allele pair is lost. An example is when a patient inherits or develops amutation in a tumor suppressor gene and the complimentary allele is then lost to deletion/mutation. The patient would not develop the cancer until the loss of the normal allele
  41. What enzyme defiencies are associated with hemolytic anemia
    Glycolytic enzymedeficiencies 1. Hexokinase 2.glucose-phosphateisomerase 3.aldolase 4.triose-phosphate isomerase 5. phosphate-glyceratekinase enolase pyruvate kinase
  42. What event in embryology can cause albinism
    lack of migration of neural crest cells to skin (formmelanocytes)
  43. What genetic error can cause Severe Combined Immnuodeficiency (SCID)?
    Adenosine deaminase deficiency
  44. what group of people can be seen with pyruvate dehydrognease deficiency
    alcoholics due to B1 defiecincy
  45. What is a complication of cystinuria
    cystine kidney stones
  46. What is a dominant negative mutation?
    a mutation that exerts a dominant effect because the body cannot produce enough of the normal gene product with only one allele functioning normally
  47. What is a good pnuemonic forthe four glycogen storage diseases
    Very-Von Gierke's Poor-Pompes Carbohydrate-Cori's Metabolism-McArdles
  48. What is commonly associated with xeroderma pigementosa?
    dry skin, melanoma and other cancers
  49. What is crucail to the diagnosis of an Autosomal dominant disease?
    Family history
  50. What is genetic anticipation?
    the severity of the disease worsens or age of onset of disease is earlier in succeeding generations
Card Set:
2013-11-04 05:18:48

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