Genetics UWS

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Author:
primo1289
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185394
Filename:
Genetics UWS
Updated:
2012-11-26 11:40:46
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Genetics Exam
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Description:
Genetics Exam II
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  1. Huntington's Disease
    • Autosomal Dominant
    • "Woodie Guthrie Disease" 
    • Progressive Involuntary twitching, personality Change, Dementia and Death

    • Mutant Gene has undergone a trinucleotide repeat 
    • Age of onset = 40 yrs
    • Very uncommon 1 / 20,000
  2. Osteogenesis Imperfecta
    • Autosomal Dominant 
    • Type I Collagen Disorder
    • Brittle done disease
    •  Short Stature, malformed bones, loose joints, blue sclera, opalescent teeth
    • Type I is most common**
    • Very Uncommon 1 / 20,000
  3. Neurofibromatosis Type 1
    • Autosomal Dominant - Von Recklinghausen Dz
    • Tumor Growth Along nerves
    • Multiple neurofibromas
    • 1 / 3000  
  4. Achondroplasia
    • Autosomal Dominant 
    • NON - Proportional Dwarfism
    • New mutation accounts for roughly 75% of all Cases
    • Uncommon 1/ 15,000 to 40,000
  5. Marfan Syndrome
    • Autosomal Dominant
    • Tall persons with disproportionally long limbs
    • Arachnodactyly
    • Subluxation of the eye lens
    • Cardiovasc. Defects
    • Uncommon 1/5000
  6. Polycystic Kidney Dz
    • Autosomal Dominant
    • Multiple Cysts in the kidneys
    • ADPKD
    • Common 1/500
  7. Phenylketonuria (PKU)
    • Autosomal Recessive
    • Amino Acid Metabolism Disorder
    • Accum. of Phenylalanine
    • Severe mental retardation
    • hypo-pigmentation
    • unsual musty odor
    • Uncommon 1 / 15,000
  8. Albinism
    • Autosomal Recessive
    • Amino Acid Metabolism Disorder
    • Deficiency of Melanin
    • Uncommon 1/ 40,000
  9. Tay-Sachs Disease 
    • Autosomal Recessive 
    • Disorder of Lipid Metabolism
    • Results in ganglioside accum. of semi-degraded myelin in the lysosomes of neurons
    • Uncommon to rare, Depends upon population (Jews) 
    • 1 / 3500 w/in jews
    • 1 / 350,000 o/s
  10. Cystic Fibrosis
    • Autosomal Recessive
    • Disorder of Chloride Transport across cell membrane
    • Exocrine Gland secretion Difficulties
    • Very Salty Sweat
    • Thick mucous secreations --> Bacterial Growth
    • Block of biliary tract
    • poor digestion 
    • pancreatic insufficiency
    • RESPIRATORY INFECTIONS
    • NOT UNcommon 1 / 2500
  11. Familial Hypercholesterolemia
    • Autosomal co-dominant
    • Disorder of High Serum Cholesterol (LDL)
    • LDL Recepter Disease
    • 2 forms:
    •      Mild Form 1 / 500 - Heterozygotes 
    •      250 - 500 mg/dl, risk of M.I. Elevated
    •      by age 60 M.I. Seen in 85% M and 50%F

    •      Severe Form (rare) 1 / 1,000,000 - Homozygous Recessive
    •      500 - 1000 mg/ dl
    •      M.I. by age 20
  12. Sickle Cell Anemia
    • Autosomal Co-Dominant
    • Disorder of abnormal hemoglobin (Beta - Globin)
    • Homozygous Recessive = Classic Dz
    • Heterozygotes = normal w/ "sickle - cell trait"
    • More common among person of african and mediterranean descent
    • 1/12 African Americans = sickle cell trait
  13. Klinefelter's Syndrome
    • Testicular Hyalinanzation
    • Sex Chromosome Anueploidy 47, XXY Karyotype
    • Sterile
    • Tall/ Lanky
    • Gynecomastia
    • Not Uncommon 1/ 500 males
  14. Turner's Syndrome
    • Gonadal Dysgenesis
    • Sex Chromosome Aneuploidy, 45, XO Karotype
    • Females
    • Sterile
    • Broad/ "Shield" Chest
    • Webbed Neck
    • Somewhat uncommon 1/ 2500
    • Make up about 10% of spontaneous abortions
  15. Holandric Genes
    Genes that reside on the Y Chromosome
  16. Seeing as males have only one X Chromosome they are said to be....?
    Hemizygous
  17. Hemophilia "A"
    • X-Linked Recessive 
    • Missing blood clotting factor VIII
    • Very uncommon 1/ 8000 Males
    • Results in Bleeding
  18. Common Colorblindness
    • X-Linked Recessive 
    • Altered color vision (Red - Green confusion)
    • Cery Common (1 / 12 Males)
  19. Duchenne-Type Muscular Dystrophy
    • X-Linked Recessive
    • Progressive Muscle Weakness
    • Uncommon 1/ 4000 males
  20. Fragile X Syndrome
    • X-Linked Recessive
    • Mental Retardation
    • THE MOST COMMON UNHERITABLE MENTAL IMPAIRMENT
    • Not uncommon 1/ 1000 males, 1/ 2500 females
  21. Male Pattern Baldness
    • X-Linked Recessive
    • Androgenic Alopecia
    • Pattern of hair loss in males due to androgen hormone
    • Very Common  33% 25 - 40 y/o, 66% 50 - 80 y/o
  22. Hemochromatosis
    • Autosomal Recessive
    • high Serum iron content
    • malaise, liver cirrhosis
    • bronzing of skin
    • cardiomyopathy
    • Common 1/ 400
    • Seen mostly in males (Sex - Influenced) 
    • Females are naturally treated once a month with mences

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