Genetics
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| BAX gene | activates apoptosis - activated by P53 gene if DNA damage is not repairable
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| BCL2 gene | inhibit apoptosis - prevent mitochondrial leakage of cytochrome c into the cytosol
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| ABL | nonreceptor tyrosine kinase activity - translocation associated with chronic myelogenous leukemia t(9:22) Philadelphia chromosome
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| HER2/ERBB2 | synthesizes receptors; amplified in breast carcinoma; is a measure of aggressiveness of breast carcinoma
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| MYC | Involved in nuclear transcription; associated with the t(8;14) translocation in Burkitt's lymphoma
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| N-MYC | Involved in nuclear transcription; amplified in neuroblastoma
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| RAS | Point mutation. Involved in GTP signal transduction; a point mutation leads to leukemia and carcinomas
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| RET | synthesizes receptors; a point mutation leads to multiple endocrine neoplasia 2a/3b syndromes
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| SIS | synthesizes growth factors; overexpression of this gene leads to osteogenic sarcoma and astrocytoma
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| Translocation t(9;22) | Chronic myelogenous leukemia; ABL mutation due to ionizing radiation. Translocation of the ABL gene from chromosome 9 to chromosome 22 and fuses with the break cluster region (BCR) of 22 (Philadelphia chromosome).
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| Translocation t(8;14) | Burkitt's lymphoma, MYC oncogene, "starry sky" with neoplastic B cells as the dark background and macrophages as the "stars"
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| Translocation t(14;18) | Follicular B cell Lymphoma. Activates BCL2, the anti-apoptotic gene, which inhibits the release of cytochrome c from mitochondria
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| Translocation t(15;17) | Acute promyelocytic leukemia
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| Translocation t(12;21) | favorable prognosis in pre-B-cell acute lymphoblastic leukemia
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| APC | Adenomatous polyposis coli; associated with familial polyposis (colorectal carcinoma); degrades catenin (which normally activates nuclear transcription) --> prevents nuclear transcription. 5q12
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| BRCA1/BRCA2 | regulates DNA repair
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| BRCA2 -- associated with which cancer(s)? | inactivation is associated with breast CA
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| BRCA1 -- associated with which cancer(s)? | inactivation is associated with breast, ovarian, and prostate CAs
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| RB | Inhibits progression from G1 to S phase in the cell cycle. Associated with Retinoblastoma, osteogenic sarcoma, breast carcinoma. RB gene/chromosome13q14: ROB is 13 or 14 - retinoblastoma, ostesarcoma, breast CA
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| TGF-B | Inhibits progression from G1 to S phase in the cell cycle. Associated with pancreatic and colorectal carcinomas.
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| TP53 | Point mutation. Inhibits progression from G1 to S phase in the cell cycle; associated with lung, colon, and breast carcinomas. Also repairs DNA and activates BAX gene to initiate apoptosis.
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| VHL | regulates nuclear transcription; associated with Von Hippel Lindau Syndrome
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| WT1 | regulates nuclear transcription; associated with Wilms' tumor (11p13), autosomal dominant
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| MEN1 | associated with increased risk of duodenal ulcers (MEN twice as likely to get it than women!)
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| What is the mutation leading to retinoblastoma? | point mutation inactivates the RB gene --> no more suppression
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| What is the mutation leading to familial adenomatous polyposis? | FAP is malignant transformation of polyps --> colorectal cancer before age 50; inactivation of APC suppressor gene
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| Li-Fraumeni syndrome involves what genetic mutation? | inactivation of TP53 --> increased risk for sarcomas, leukemia, carcinomas before 50
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| Most variable phase in cell cycle | G1
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| G0 Phase of cell cycle | Resting phase; stable parenchymal cells
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| G1 Phase of cell cycle | Synthesis of RNA, protein, organelles, and cyclin D; DNA repair; most variable phase
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| S Phase of cell cycle | Synthesis of DNA, RNA, protein; double the amount of genomic material
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| G2 Phase of cell cycle | Synthesis of tubulin, necessary for formation of the mitotic spindle
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| Silent mutation | mutation codes for same aa -- no phenotypic change
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| Missense mutation | different aa -- phenotypic change
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| Nonsense mutation | codes for stop codon --> premature termination of protein synthesis
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| Transition mutation | purine substitution for purine (A for G, or vice versa) or pyrimidine substitution for a pyrimidine (C for T or vice versa)
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| Transversion mutation | Purine (A or G) replaces a pyrimidine (C or T)
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| Name the purines and pyrimidine and tell which attaches to which in DNA. | Purines = A and G (purAGe), Pyrimidines = C and T (pyrTC); A-T, C-G
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| Barr body | In females (usually), the X chromosome that is inactivated and attached to the nuclear membrane
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| What is the difference between nondisjunction and mosaicism? | Nondisjunction is the unequal separation of chromosomes in meiosis -- 22 or 24 chromosomes end up in the gamete. Mosaicism is the unequal separation of chromosomes in mitosis.
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| Mitrochondial DNA disorders inherited from whom? | Mother because sperms lose their mitochondria so all a person's mitochondria comes from mom.
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| What happens in embryonic sexual differentiation when there is no Y chromosome? | Wolffian ducts --> apoptosis. The default pathway is to have keep the female structures.
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| What happens in embryonic sexual differentiation when there is a Y chromosome? | Sertoli cells make MIF (Mullerian inhibitory factor) --> Mullerian ducts --> apoptosis --> keep male structures.
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| what is genetic anticipation? | phenomenon whereby a disease presents at an earlier age (with deeper penetrance) as it's passed down through generations; happens with trinucleotide repeat diseases
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| name three trinucleotide repeat diseases | Huntington's, Duchenne muscular dystrophy, fragile X. TriNUC (3 bombs): 3D (Duchenne) Hunting -- aim for the X.
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| What is a chromosomal pericentric inversion? | An inversion in which the breakpoints occur on both arms of a chromosome. The inverted segment includes the centromere. perI --> Includes centromere.
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| What is a chromosomal paracentric inversion? | An inversion in which the breakpoints occur on both arms of a chromosome. The inverted segment does NOT include the centromere. perI --> INcludes centromere. parA doesn't have an I so it doesn't INclude.
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| What is a restriction fragment length polymorphism? | RFLP. a variation in the DNA sequence of a genome which can be detected by a laboratory technique known as gel electrophoresis; important in genome mapping & locating genetic disease genes. The basic technique for detecting RFLPs involves the fragmentat
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| Resistance transfer factor | bacterial plasmid that encodes one or more drug resistance genes & has capability of mediating its own transfer to another bacterium during conjugation. Most have formed by the accumulation of transposons into fertility factor plasmids.
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| How do transposons insert themselves into a new location? | site-specific recombination. Flanking DNA sequences of a transposon are indirect repeats that are complimentary and antiparallel to one another. SSR is when transposons create direct repeats to insert their mobile DNA.
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| tra operon | Transfer operon. Genes necessary for non-sexual transfer of genetic material in bacteria. The tra genes encode proteins which are useful for the propagation of the plasmid from the host cell to a compatible donor cell or maintenance of the plasmid.
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| mutations involved in adenoma carcinoma of colon | APC, RAS, TP53
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| Mutations in DNA mismatch genes | Colon cancer
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| germline mutation of NF2 gene at long arm of chromosome 22 (22q) | bilateral acoustic neuroma (tumor on CN8 - acoustic nerve)
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| germline mutation of NF1 gene at long arm of chromosome 17 (17q11) | neurofibromatosis type 1
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| Name two genetic mechanisms that can lead to either Angelman syndrome or Prader Willi. | Genomic imprinting or uniparental disomy.
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