Biochemistry

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  1. Dominant Negative
    Heterozygote produces a protein that prevents the normal protein from functioning
  2. Linkage Disequilibrium
    alleles at linked loci occur together more frequently than expected (measured in a population, NOT a family)
  3. Locus Heterogeneity
    mutations at different loci can result in similar phenotypes
  4. allelic heterogeneity
    different mutations at the same locus can produce the same phenotype
  5. uniparental disomy
    euploid and often results in a normal phenotype
  6. heterodisomy
    meiosis I error
  7. isodisomy
    meiosis II error or postzygotic chromosomal duplication of one chromosome and loss of the other
  8. Pleiotropy
    multiple seemingly unrelated effects
  9. XLR Disorders
    • Oblivious (Ornithine Transcarbamylase Def)
    • Females (Fabry Dx)
    • Will (Wiskott-Aldrich)
    • Often (Ocular Albanism) 
    • Give (G6PD Def)
    • Her (Hunter)
    • Boys (Bruton Agammaglobulinemia)
    • Her (Hemophilia A&B)
    • XLDs (Lesch-Nyhan Syndrome & Duchenne/Becker Musculodystrophy)
  10. Huntington (gene)
    CAG repeats on chromosome 4
  11. Fragile X (gene)
    CGG repeats on X chromosome
  12. Myotonic Dystrophy (gene)
    CTG repeats on chromosome 19
  13. Friederich Ataxia (gene)
    GAA on chromosome 9
  14. McCune-Albright Syndrome
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. Mosaicism
    • 2. GNAS
    • 3. unilateral cafe-au-lait spots with ragged edges, polyostotic fibrous dysplasia, endocrinopathy, ↑IL-6
    • ** can be lethal if occurs before fertilization
  15. Prader-Willi Syndrome
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. Maternal Imprinting 
    • 2. Maternal Ch.15 is silent, Paternal is deleted
    • 3. Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia
  16. Angelman Syndrome
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. Paternal imprinting
    • 2. paternal ch.15 is silent, maternal is deleted
    • 3. inappropriate laughter, seizures, ataxia, severe intellectual disability
  17. Hypophosphatemic Rickets
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. XLD
    • 3. Increased Phosphate wasting at proximal tubule
  18. Fragile X Syndrome
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. XLD
    • 2. Trinucleotide Repeat (CGG)
    • 3. intellectual disability, long face, large chin, post-puberty macroorchidism, large everted ears, autism, and mitral valve prolapse
  19. Alport Syndrome (inheritance)
    XLD
  20. Mitochondrial Myopathies
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. Mitochondrial
    • 2. Ox Phos Failure
    • 3. Myopathy, Lactic Acidosis, CNS Dx, and Ragged Red Fibers
  21. Cystic Fibrosis
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. AR
    • 2. CFTR (Ch.7) ΔF508
    • 3. Recurrent pulmonary infections, pseudomonas, chronic bronchitis, bronchiectasis, opacification of sinuses, pancreatic insufficiency, malabsorption, biliary cirrhosis, liver disease, meconium ileus, male infertility, female subfertility
  22. Duchenne MD
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. XLR
    • 2. Frameshift/Nonsense Mutation in DMD
    • 3. myonecrosis, pelvic girdle - superior progression, pseduohypertrophy, dilated cardiomyopathy, ↑CK and Aldolase
  23. Becker MD
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. XLR
    • 2. Non-frameshift deletions
    • 3. less severe presentation of DMD
  24. Myotonic Type 1
    1. Inheritance
    2. Mutation
    3. Presentation
    • 1. AD
    • 2. CTG repeat in DMPK (myotonin PK)
    • 3. myotonia, muscle wasting, cataracts, balding, and gonadal atrophy
  25. Down Syndrome
    1. First Trimester
    2. Second Trimester
    • 1. nuchal translucency, hypoplastic nasal bone, ↓PAPP-A and ↑βhCG
    • 2. ↑βhCG, ↑ Inhibin A, ↓αFP and ↓ estriol
  26. Edwards Syndrome
    1. Chromosome
    2. Presentation
    3. 1st Trimester
    4. 2nd Trimester
    • 1. 18
    • 2. prominent occiput, rocker-bottom feet, intellectual disability, clenched fists with overlapping fingers, low set ears, micrognathia, congenital heart disease
    • 3. ↓ PAPP-A and βhCG
    • 4. ↓ βhCG, Inhibin A, αFP, and estriol
  27. Patau Syndrome
    1. Chromosome
    2. Presentation
    3. 1st Trimester
    • 1. 13
    • 2. intellectual disability, rocker-bottom feet, micropthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, cutis aplasia, congenital heart disease
    • 3. ↓ PAPP-A and βhCG
  28. Chromosome 3
    VHL & RCC
  29. Chromosome 4
    ADPKD (PKD2), Achondroplasia, Huntington Disease
  30. Chromosome 5
    Cri-du-chat, FAP
  31. Chromosome 6
    Hemochromatosis (HFE)
  32. Chromosome 7
    Williams Syndrome & Cystic Fibrosis
  33. Chromosome 9
    Frederich Ataxia
  34. Chromosome 11
    Wilms Tumor, β-globin gene defects (sickle cell and βthal), and MEN1
  35. Chromosome 13
    Patau Syndrome, Wilson Disease, Rb, BRCA2
  36. Chromosome 15
    Prader-Willi, Angelman Syndrome, Marfan Syndrome
  37. Chromosome 16
    ADPKD (PKD1), α-globin gene defects
  38. Chromosome 17
    Neurofibromatosis 1, BRCA1, and p53
  39. Chromosome 18
    Edwards
  40. Chromosome 21
    Down Syndrome
  41. Chromosome 22
    Neurofibromatosis 2 & DiGeorge Syndrome (22q11)
  42. Chromosome X
    Fragile X Syndrome, X-linked agammaglobulinemia, and Klinefelter's Syndrome (XXY)
  43. Cri-du-chat
    microcephaly, intellectual disability, high-pitched cry, epicanthal folds, VSD
  44. Williams Syndrome
    elfin face, intellectual disability, hypercalcemia, well-developed verbal skills, stranger friendly, cardiovascular problems
  45. PKU
    1. Inheritance
    2. Enzyme
    3. Presentation
    • 1. AR
    • 2. Phenylalanine Hydroxylate or BH4
    • 3. Tyrosine becomes essential because it cannot be produced from Phe, Intellectual disability, growth retardation, seizures, fair skin, pallor in LC, NucDors, and SN, eczema, and musty body odor
  46. Alkaptonuria
    1. Inheritance
    2. Enzyme
    3. Presentation
    • 1. AR
    • 2. Homogentisate Oxidase (Tyr → Fum)
    • 3. accumulation of homogentisic acid in tissue (blue black deposits) also joint pain
  47. Homocystinuria
    1. Inheritance
    2. Presentation
    3. Enzymes
    • 1. AR
    • 2. ↑ homocysteine in urine, osteoporosis, marfanoid, ocular changes (down/in subluxation), cardiovascular effects, kyphosis, and intellectual disability
    • 3. Cystathionine Synthase Deficiency (↑cysteine, B6, B12, and folate)
  48. Type 1 GSD (Von Gierke Dx)
    • G6Pase def
    • fasting hypoglycemia, hepatomegaly, ↑blood lactate, and hyperuricemia
  49. Type II GSD (Pompe Dx)
    • Lysosomal α-1,4-glucosidase
    • Hypertrophic cardiomyopathy, hypotonia, exercise intolerance, early death
  50. Type III GSD (Cori Dx)
    • Debranching Enzyme
    • milder form of Von Gierke with normal blood lactate levels and accumulation of limit dextrans in cytosol
  51. Type IV GSD (McArdles)
    • glycogen phosphorylase
    • increased glycogen in muscles, cramps, myoglobinuria with exercise, arrhythmia, and second wind phenomenon
  52. Hexosaminidase A (GM2 ganglioside)ARneurodegeneratioin, cherry red spot, developmental delay, lysosomes with onion skin, no hepatomegaly
    Tay Sachs
  53. α-galatosidase A (Ceramide Trihexoside)XLRperipheral neuropathy, angiokeratomas, hypohidrosis, progressive renal failure and CV Dx
    Fabry Dx
  54. Arylsulfatase A (Cerebroside Sulfate)ARdemyelination, ataxia, and dementia
    Metachromatic Leukodystrophy
  55. Galactocerebrosidase (Galactocerebroside, Psychosine)ARperipheral neuropathy, developmental delay, optic atrophy, globoid cells
    Krabbe Dx
  56. Glucocerebrsidase
    AR
    Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, and gaucher cells
    Gaucher
  57. Sphingomyelinase
    AR
    Neurodegeneration, Hepatosplenomegaly, Foam Cells, and Cherry Red Spot
    Niemann Pick
  58. α-L-iduronidase (Heparan sulfate and dermatan sulfate)
    AR
    developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
    Hurler Syndrome
  59. Iduronate Sulfatase (Heparan/Dermatan Sulfate)
    XLR
    aggressive behavior and no corneal clouding
    Hunter

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Author:
dbaith
ID:
331871
Filename:
Biochemistry
Updated:
2017-05-31 14:04:27
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Biochem Flash Cards
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