Term
| What is the type of mutation that creates a stop codon? |
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Definition
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Definition
| inhibit apoptosis - prevent mitochondrial leakage of cytochrome c into the cytosol |
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Definition
| synthesizes receptors; amplified in breast carcinoma; is a measure of aggressiveness of breast carcinoma |
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Definition
| Involved in nuclear transcription; associated with the t(8;14) translocation in Burkitt's lymphoma |
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Definition
| Chronic myelogenous leukemia; ABL mutation due to ionizing radiation. |
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Definition
| Burkitt's lymphoma, MYC oncogene, "starry sky" with neoplastic B cells as the dark background and macrophages as the "stars" |
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Term
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Definition
| Follicular B cell Lymphoma. Activates BCL2, the anti-apoptotic gene, which inhibits the release of cytochrome c from mitochondria |
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Definition
| Acute promyelocytic leukemia |
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Definition
| favorable prognosis in pre-B-cell acute lymphoblastic leukemia |
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Definition
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Term
| BRCA1 -- associated with which cancer(s)? |
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Definition
| inactivation is associated with breast, ovarian, and prostate CAs |
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Definition
| Inhibits progression from G1 to S phase in the cell cycle. Associated with Retinoblastoma, osteogenic sarcoma, breast carcinoma. |
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Definition
| Inhibits progression from G1 to S phase in the cell cycle. Associated with pancreatic and colorectal carcinomas. |
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Term
| MEN1 defect associated with? |
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Definition
| associated with increased risk of duodenal ulcers (MEN twice as likely to get it than women!) |
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Term
| What is the mutation leading to familial adenomatous polyposis? |
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Definition
| FAP is malignant transformation of polyps --> colorectal cancer before age 50; inactivation of APC suppressor gene |
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Term
| What happens in embryonic sexual differentiation when there is no Y chromosome? |
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Definition
| Wolffian ducts --> apoptosis. The default pathway is to have keep the female structures. |
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Term
| What happens in embryonic sexual differentiation when there is a Y chromosome? |
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Definition
| Sertoli cells make MIF (Mullerian inhibitory factor) --> Mullerian ducts --> apoptosis --> keep male structures. |
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Term
| name three trinucleotide repeat diseases |
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Definition
| Huntington's, Duchenne muscular dystrophy, fragile X. “TriNUC (3 bombs): 3D (Duchenne) Hunting -- aim for the X.” |
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Term
| What is a restriction fragment length polymorphism? |
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Definition
| RFLP. a variation in the DNA sequence of a genome which can be detected by a laboratory technique known as gel electrophoresis; |
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Term
| How do transposons insert themselves into a new location? |
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Definition
| site-specific recombination. Flanking DNA sequences of a transposon are indirect repeats that are complimentary and antiparallel to one another. |
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Term
| Mutations in DNA mismatch genes |
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Definition
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Term
| Name two genetic mechanisms that can lead to either Angelman syndrome or Prader Willi. |
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Definition
| Genomic imprinting or uniparental disomy. |
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