Flash Cards Diseases.txt

  1. Alpha-thalassemia
    HBA1 and HBA2 deletion, alpha-globin chromosome 16, unequal crossing over and homologous pairing, autosomal recessive, reduction in the production of alpha-globin
  2. Beta-0 thalassemia
    deletion of B-globin genes, frameshift or nonsense mutation, major: homozygote, impaired RNA synthesis, impaired primary mRNA,
  3. Beta + thalassemia
    downregulation two beta-globin genes minor: heterozygote
  4. Angelman
    imprinting-defect in the maternal gene inactivation of deletion on chromosome 15 mental retardation, ataxia
  5. Prader-Willie
    imprinting-defect in the paternal gene inactivation of paternal allele that is normally active mental retardation, obesity, hypotonia, hyperphasia
  6. Familial inherited hypercholesterolemia
    LDL-Receptor gene, chromosome 19 Alu repeats-->unequal crossing over inability to bind cholesterol, high cholesterol
  7. Duchenne muscular dystrophy
    Dystrophin gene Mutation in very long gene X-linked recessive progressive neuromuscular disorder
  8. Xeroderma pigmentosum
    NER coupled gene NER mutation-->inability to repair thymine dimers autosomal recessive inability of Nucleotide Excision Repair (NER)--> unable to repair DNA damage from UV because thymine-dimers require NER, skin malginancy first, then neuro
  9. Cockaynes syndrome
    NER coupled gene, not the XP gene NER mutation autosomal recessive
  10. Lynch syndrome (HNPCC)
    MSH2 and MLH1 (60%) MSH1 and PMS2 also involved Error in msmatch repair-->Microsatellite instability autosomal dominant Mutations in MMR lead to inability to repair single nucleotide errors-->tumors in proximal colon (sometime endometrium, urinary tract, stomach), 90% are MSI-H or MSI-L
  11. MAP-T/tau protien isoforms
    chromosome 17 stem loop is destabilized as a result-->causes increase recognition of exon 10 Related to Alzheimers
  12. Chronic Myelogenic leukemia (CML)
    translocation from chromosone 9-->22 (philadelphia chromosome, ABL BCR genes) Puts regulatory region in the wrong place N/A myeloid stem cell proliferation, splenomegaly
  13. Cystic Fibrosis
    CFTR (chromosome 7) Poly T tract-homozygous loss of cAMP ion channel malfunction- cells cannot maintain osmolality, missfolded proteins in PDZ domain autosomal recessive severe pulmonary disease, male infertility
  14. Rett Syndrome
    MECP2 (X-chrome) Inability to recruit binding proteins to methylated sites at CpG islands X-linked dominant DNF build up in the brain leading to severe neurological disorders and mental retardation
  15. Amylotrophic lateral sclerosis (Lou Gehrig's)
    Dominant negative protein aggregates in brain unknown,role of glutamate and myelnation familial account for 5-10% death of upper and lower motor neurons-->muscle twitching, weakness, muscle atrophy
  16. Hereditary spherocytosis
    defect in ankyrin binding Autosomal dominant hemolytic anemia, splenomegaly, RBCs are tennis ball-like
  17. Hereditary ellipsocytosis
    defect in spectrin self association site to form the slinky Autosomal dominant hemolytic anemia, splenomegaly, RBCs are elliptical
  18. Gaucher's disease
    post-translational modification in enzymatic processing Deficiency in glucocerebrosidase fatty accumulations spleen, liver, kidney, brain, blood, bone marrow THERAPY: GENZYME
  19. Sickle Cell Anemia
    B-globin gene, point mutation from Glutamate to Valine Hb-S polymerizes in deoxygenated conditions Autosomal co-dominant Anemia, joint pain, jaundice, splenomegaly
  20. Atherosclerosis
    triglyceride (LDL) accumulation in arteries high cholesterol (LDL accumulation)
  21. Lactose intolerance
    lactase enzyme activity decreased with age deficiency in the lactase enzyme abdominal cramping, indigestion
  22. I-cell disease
    deficiency in N-acetylglucose 1 P transferase substrate for that enzyme builds up in the lysosome and inclusion bodies seen in fibroblasts extracellular matrix substrate for that enzyme builds up in the lysosome and inclusion bodies seen in fibroblasts extracellular matrix
  23. Platelet activating factor
    phospholipid synthesis enhanced because of IgEs (anaphylactic shock)
  24. Ehlers-Danlos
    collagen type III defect involved the mutation in collagen processing hyper flexible joint, joint disease
  25. Brittle bone disease
    abnormal type I collagen autosomal dominant multiple factors with minimal trauma, hearing loss, dental imperfcetion
  26. Leber's Hereditary Optic Neuropathy
    retinal Ganglion Cells (RGCs) and their axon, mitochondrial inheritance, acute or subacute loss of central vision (mostly young males)
  27. Patau's Syndrome
    trisomy 13, cleft pallet
  28. Edward's Syndrome
    trisomy 18, distinct head shape (large back), dysmophic folding of the hand, rocker bottom feet
  29. Smith-Magenis Syndrome
    deletion of low-copy repeat sequence on chromosome 17
  30. Charoot-Marie Tooth Syndrome
    duplication of low-copy repeat sequence on chromosome 17
  31. DiGeorge Syndrome
    deletion of low-copy repeat sequence on chromosome 22, cardiac abnormalities
  32. Klinefelter Syndrome
    47 XXY and XXY variants, males, tall, thin, long legs, hypogonadism with infertility, mild learning disabilities, socially aggressive
  33. XYY Syndrome
    47 XYY, males, pretty normal, don't daignose until being worked up for unexplained mental retardation, socially aggressive
  34. Trisomy X
    47 XXX, females, not classified as mentally retarded, but are learning disabled and poor social adjustment
  35. Turner Syndrome
    45 X, 99% fetal demise, short stature, gonadal dysgenesis, webbed neck, low posterior hairline, broad chest, frequent renal problems, average to above average intelligence
Card Set
Flash Cards Diseases.txt
HB-1 Exam 1 Diseases