chromosomes

Card Set Information

Author:
manjinder
ID:
135168
Filename:
chromosomes
Updated:
2012-04-30 20:33:00
Tags:
chromosomes
Folders:

Description:
chromosome abnormalities
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  1. 11p13
    WT-1 Wilms tumor gene
  2. 13q14
    • RB retinoblastoma gene, osteosarcoma
    • product blocks G1 --> S phase of the cell cycle
  3. 17q11
    NF-1 neurofibromatosis gene
  4. 22q12
    NF-2 neurofibromatosis gene
  5. 5q21
    APC familial adenomatous polyposis
  6. 17p13
    • p53 Li-Fraumeni-syndrome
    • product blocks G1 --> S phase of the cell cycle
  7. 17q12-21
    BRCA1- Breast and ovarian cancer
  8. 13q12-13
    BRCA-2
  9. 18q
    • DPC- pancreatic cancer
    • Deleted in Pancreatic Cancer
  10. 3p25
    3 words for chromosome 3
    • von-Hippel-Lindau disease
    • hemangioblastomas of retina/cerebellum/medulla
    • multiple bilateral renal cell carcinomas
    • results in constitutive expression of HIF (transcription factor) due to deletion of VHL gene (tumor suppressor)
  11. 18q21
    colon cancer

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