Diseases note cards HB1.txt

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Diseases note cards HB1.txt
2010-09-07 22:00:46
human genetic diseases

exam 1 practice
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  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. Kartenger Syndrome
    • affects dynein autosomal dominant "situs inversus, patients have underlying ciliopathy, Chrnoic sinusitis, chronic bronchitis because of the inability of the cilia to move mucous through the lungs
    • "
  27. Smith Lenli Opitz
    DHCR7 deficiency--> cholesterol deficiency (SLO No Cho-lesterol) rare cholestrol deficiency leads to multiple congenital abnormalities
  28. Cholera toxin
    not genetic but affects the CFTR toxin binds to GM1 ganglioside, A subunit dissociates, B enters cell--cAMP permanently on, loss of Cl- from cell, low Na+ inside diarrhea, rice water stool, dehyrdation
  29. Achondroplasia
    Fibroblast Growth Factor Receptor 3 (FGFR3) Autosomal dominant short limbed dwarfism, short limbed intelligence
  30. ABO Blood groups
    ABO blood group gene-Chromosome 9 convert precursor H antigen to A or B antigen, O allele0enzyme with no function Autosomal co-dominant ABO gene 7 exons, exon 7 is largest, exon 6 has allele for deletion in "O" ABO antigens expressed on RBCs, epithelial and endothelial cells
  31. Hemophilia
    X-linked recessive factor XIII bleed easily X-linked recessive
  32. Vitamin D Resistant Rickets
    endopeptidase gene inability of kidney tubules to reabsorb phosphate X-linked dominant short stature
  33. Bardet Biedl Syndrome
    Triallelic inheritance obesity, rentinits pigmentosa, polydactyly, mental retardation, renal failure
  34. LHON Leber's Hereditary Optic Neuropathy
    Mitochondrial inheritance, Degeneration of retinal ganglion cells and their axons-acute loss of central vision
  35. MERFF Myoclonic Epilepsy with Ragged Red Fibers
    Point mutation at position disrupts the mitochondrial gene for tRNA-Lys disrupts synthesis of oxidative phos proteins
  36. Waardenburg Syndrome
    Variable expressivity Within the same family you can have different levels of expressivity (deafness, pigment changes, etc)
  37. MEN2A, MEN2B
    RET gene gain of function mutation of RET example of phenotypic variation multiple endorine neoplasia
  38. Hirschsprung disease
    RET gene loss of function mutation of RET example of phenotypic variation defective colonic motility--constipation
  39. Down Syndrome
    trisomy 21, spontaneous, AMA implicated Facial dysmorphia, cardiac disease and Leukemia (top 2), Hypothyroid, Hearing screens
  40. Ptau syndrome
    trisomy 13, spontaneous, rare 1: 25000 facial dysmorphia
  41. Edwards syndrome
    trisomy 18, spontaneous, rare 1: 25000 distinct head shape, facial dysmorphia, rocker bottom feet
  42. Smith-Magenis syndrome
    deletion on chromosome 17, 175-250 bp repeats cause deletion autosomal spontaneous
  43. Dup(17.p11.2p11.2)
    duplication on chromosome 17, 175-250 bp repeats cause deletion autosomal spontaneous, same gene as Smith Magenis, but duplication causes different phenotype
  44. Prader-Willie/Angelman syndrome
    deletion of chromosome 15, 400 bp repeats cause deletion autosomal spontaneous exhibits the concept of imprinting and uniparental disomy, when the allele is mutated on the maternal or paternal allele
  45. DiGeorge Syndrome
    deletion on chromosome 22, 225-400 bp repeats autosomal spontaneous velocardiofacial syndrome,
  46. Klinefelter's Syndrome
    47 XXY or 48XXXY Tall thin, long legs, hypogonadism, infertility, mild learning disabilities, psychosocial adjustment
  47. 47 XYY
    extra Y 47 XYY Normal phenotype and fertility, but lower IQ, can be more aggressive
  48. Trisomy X
    extra X female 47, XXX Tall stature, usually fertile, lower IQ, detected by testing for fragile X syndrome
  49. Turner syndrome
    loss of X, 45 X, Less common than the other, Broad flat chest, webbing of neck, short stature, Average to above average intelligence, nonverbal IQ<<verbal IQ
  50. Neurofibromatosis (NF1)
    • NF1 gene--loss of function mutation--autosomal dominant
    • Variable expressivity in the production of neurofibrin
    • Cafe au lait spots, benign fleshy tumors, Lish nodules in the iris of the eye
  51. Huntington's Disease
    • Unstable CAG repeats s-polyglutamine disorder (less amount of repeats necessary to cause disease)--autosomal dominant--gain of function mutation
    • Normal has 9-35 repeats, HD has 40 or more repeats
    • Causes conitive abnormalities, neurodegenerative disase
  52. Spinocerebellar ataxia (SCA)
    CAG repeats
  53. FraGile X
    • FMR1 gene on X--many CGG repeats in the 5' UTR region of the first exon of FMR1
    • Normal has 60-200, Fragile X has greater than 200
    • Chromatin fails to condense during mitosis
    • Penetrance is 50-60% in females, affects males more
    • Most common form of HERITABLE mental retardation
    • Carriers of pre-mutation can have FX associated tremor and ataxia
  54. myoTonic Dystrophy
    • CTG repeats, normal is 5-30, diseas is 50-80, autosomal dominant
    • Noterious for lack of penetrance and variable expressivity
    • Clear evidence of anticipation
    • Muscular dystrophy, cataracts, hypogonadism
  55. Menkes-Wilson
    Copper ATPas pump, affect neurological function
  56. Factor V
    hypercoagulation caused by the defect in Factor V--> overactivity of clotting Protein C
  57. Factor VIII
    inversion aberrant, evident in 45% of all non-familial Hemophilia A
  58. Beckwidth-Weidemann
    example of imprinting, macroglossia
  59. Guillan Barre syndrome
    glycolipid associated disease, autoimmune attack of Schwann cells