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  1. Neural Tube Defect
    Most common birth defect in women. Can detect by high alpha-feto protein. Anterior (anancephaly), Posterior (spina bifida or meningomyelocele). Good example of a multifactorial, influenced by gene and environment. Environment low folic acid causes methionine synthase to remain inactive; Public Health Initiate to Take Folic acid has decreased NTD by 75%. Genetic; NTD increases with affected relatives.
  2. Cystic Fibrosis
    F508 mutation is most common. Use cascade screening, which checks for high IRT levels, to eliminate individuals from further screening.
  3. Carcinoma
    cancer of epithelial cell in general
  4. basal cell carcinoma
    cancer of epith. keratocyte
  5. adenocarcinoma
    cancer of glandular organization
  6. cholangiocarcinoma
    cancer of bile duct epithelium
  7. Sarcoma/Myoma (benign)
    cancer of muscle, CNT
  8. Chondrosarcoma/Chondroma (benign)
    cancer of cartilage
  9. Melanoma
    cancer of melanocyte
  10. oncogene not usually inheriter. (inherited cancers are typically tumor supressors). Except!!! What are the two exception?
    Inherited Oncogenes both of which cause tyrosine kinase receptor overactivity. RET oncogene---> endrocrine neoplasm (MEN2A or MEN2B) and MET oncogene---> renal neoplasm
  11. Burkitt's Lymphoma (be specific) Treatment?
    activation of oncogene via chromosomal translocation. cMyc gene is overexpressed in heavy chain immunoglobin. Translocation between 8/14 (2/8 or 8/33). Treat with EPOCH-Rituxan
  12. Chronic Myelogenous Leukemia-CML (specific) Treatment?
    activation of oncogene via chromosomal translocation. cancer of hematopoietic cells of meyoblasts (which normally produce WBC) causes death from bleeding and infection of bone marrow. Translocation produces philadelphia chromosome which makes bcr-abl fusion protein. Treatment Gleecec/imatinib is a bcr-abl fusion protein inhibitor.
  13. Retinoblastoma (sporadic v. familial)
    Rb-tumor suppressor gene mutation due to loss of heterogeneity. Autosomal Dominant type. Sporadic is unilateral and later onset. Familar is bilateral, with multiple tumors and early onset.
  14. LiFraumeni Syndrome
    p53-tumor suppressor gene mutation due to **missense mutation (remember most other tumor supp are loss of function mutations). This distrupts the tetramer structure of good p53 products. MDM2 normally blocks p53 induced cell division. Easy to ID pedigree is full of many different types of cancer. Regular screenings required. occurs if young age sarcoma or 1st degree family member has cancer at a young age.
  15. Intraclass Coefficient
    Theory that if a trait is solely inherited, correlation of that trait = %DNA shared. So 0.5 correlation of a solely inherited trait between siblings.
  16. Estimate of Heritability
    Her = 2 x (%MZ concor - %DZ concor)
  17. Relative Risk Ration (upside-down Ys)
    Hints that a trait is inherited if it fits this model. Ys = DNA shared with indiv./General prevalence. Example General prevalence of HD is 0.01%. So with a sibling Ys = 50%/0.01% = 5000. THat's 5000 x fold increase in getting HD than the general population.
  18. Alzheimer's Disease
    Multifactorial disease. Env ---> late onset depends on age and ethnicity. Genetic ---> early onset with inherited APP or PS1 mutations
  19. Diabetes (TypeI, TypeII, MODY)
    Multifactorial disease. Mechanism of glucose control is very complex with many proteins. TypeI ---> beta cell autoimmune and associated with HLA protein. TypeII ---> insulin resistance with weight and no HLA association. MODY ---> Juvenile onset but like type II. Again no HLA association.
  20. Miller SYndrome
    Pyrimidine synthesis reactions will cause problems. disorder characterized by multiple malformations, cleft palate, hypoplasia, eyelid issue, supernumarary nipples.
  21. Sickle Cell Disease
    COmmon in west africans or areas where malaria is common. Heterzygous advantage for malaria
  22. Gate Keeper Hypothesis
    Explains why a gene that has a certain function in many tissues does not cause cancer of all of those tissue types. Each tissue type has a particular gene that is responsible for maintaining a constant cell #.
  23. Adenomatous Polyposis Coli (APC)
    tumor supressor gene where beta-catenin is activated---> promotes cell division. Normally APC inactivates beta-catenin. Polyps develop in large intestine. Initially benign but eventually malignant
  24. Ataxia Telangiectasis
    Tumor supressor type mutation of 3'Kinase. p53 defect where growth of damaged DNA is not stopped. Autosomal Dominant. Cerebellar ataxia
  25. Xeroderma Pigmentosa
    Caretaker gene - Nucleotide Excision Repair. UV radiation can cause skin carcinoma or melanoma. Skin and eye photosensitivity and skin lesions
  26. Hereditary Non-polyposis Colon Cancer
    Caretaker gene - post-rep DNA mismatch repair and microsatellite instability. UV rad can cause colon and ovarian cancer
  27. Blooms SYndrome/Werener's Syndrome
    Caretaker - ds DNA repair. Mild alkylating agents cause carcinoma, leukemia, lymphoma
  28. Fanconi Anemia
    Caretaker - ds DNA repair. DNA crosslinking or oxidizing chemicals cause acute myeloid leukemia, and squamous cell carcinoma. developmental abnormalities, anemia, infertility
  29. Herediditary Breast Cancer
    caretaker - ds DNA repair. BRCA1(17q AD - ovarian and breast cancer) or BRCA2(13q AD just breast cancer) associated with father --> transmission and Falconi anemia pathway. 10% incidence with 20% having a genetic component.
Card Set:
2011-05-20 05:40:47
Genetics Exam

Genetics Exam 3
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