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Genetics - ABIM


BAX gene activates apoptosis - activated by P53 gene if DNA damage is not repairable
BCL2 gene inhibit apoptosis - prevent mitochondrial leakage of cytochrome c into the cytosol
ABL nonreceptor tyrosine kinase activity - translocation associated with chronic myelogenous leukemia t(9:22) Philadelphia chromosome
HER2/ERBB2 synthesizes receptors; amplified in breast carcinoma; is a measure of aggressiveness of breast carcinoma
MYC Involved in nuclear transcription; associated with the t(8;14) translocation in Burkitt's lymphoma
N-MYC Involved in nuclear transcription; amplified in neuroblastoma
RAS Point mutation. Involved in GTP signal transduction; a point mutation leads to leukemia and carcinomas
RET synthesizes receptors; a point mutation leads to multiple endocrine neoplasia 2a/3b syndromes
SIS synthesizes growth factors; overexpression of this gene leads to osteogenic sarcoma and astrocytoma
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).
Translocation t(8;14) Burkitt's lymphoma, MYC oncogene, "starry sky" with neoplastic B cells as the dark background and macrophages as the "stars"
Translocation t(14;18) Follicular B cell Lymphoma. Activates BCL2, the anti-apoptotic gene, which inhibits the release of cytochrome c from mitochondria
Translocation t(15;17) Acute promyelocytic leukemia
Translocation t(12;21) favorable prognosis in pre-B-cell acute lymphoblastic leukemia
APC Adenomatous polyposis coli; associated with familial polyposis (colorectal carcinoma); degrades catenin (which normally activates nuclear transcription) --> prevents nuclear transcription. 5q12
BRCA1/BRCA2 regulates DNA repair
BRCA2 -- associated with which cancer(s)? inactivation is associated with breast CA
BRCA1 -- associated with which cancer(s)? inactivation is associated with breast, ovarian, and prostate CAs
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
TGF-B Inhibits progression from G1 to S phase in the cell cycle. Associated with pancreatic and colorectal carcinomas.
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.
VHL regulates nuclear transcription; associated with Von Hippel Lindau Syndrome
WT1 regulates nuclear transcription; associated with Wilms' tumor (11p13), autosomal dominant
MEN1 associated with increased risk of duodenal ulcers (MEN twice as likely to get it than women!)
What is the mutation leading to retinoblastoma? point mutation inactivates the RB gene --> no more suppression
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
Li-Fraumeni syndrome involves what genetic mutation? inactivation of TP53 --> increased risk for sarcomas, leukemia, carcinomas before 50
Most variable phase in cell cycle G1
G0 Phase of cell cycle Resting phase; stable parenchymal cells
G1 Phase of cell cycle Synthesis of RNA, protein, organelles, and cyclin D; DNA repair; most variable phase
S Phase of cell cycle Synthesis of DNA, RNA, protein; double the amount of genomic material
G2 Phase of cell cycle Synthesis of tubulin, necessary for formation of the mitotic spindle
Silent mutation mutation codes for same aa -- no phenotypic change
Missense mutation different aa -- phenotypic change
Nonsense mutation codes for stop codon --> premature termination of protein synthesis
Transition mutation purine substitution for purine (A for G, or vice versa) or pyrimidine substitution for a pyrimidine (C for T or vice versa)
Transversion mutation Purine (A or G) replaces a pyrimidine (C or T)
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
Barr body In females (usually), the X chromosome that is inactivated and attached to the nuclear membrane
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.
Mitrochondial DNA disorders inherited from whom? Mother because sperms lose their mitochondria so all a person's mitochondria comes from mom.
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.
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.
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
name three trinucleotide repeat diseases Huntington's, Duchenne muscular dystrophy, fragile X. TriNUC (3 bombs): 3D (Duchenne) Hunting -- aim for the X.
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.
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.
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
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.
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.
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.
mutations involved in adenoma carcinoma of colon APC, RAS, TP53
Mutations in DNA mismatch genes Colon cancer
germline mutation of NF2 gene at long arm of chromosome 22 (22q) bilateral acoustic neuroma (tumor on CN8 - acoustic nerve)
germline mutation of NF1 gene at long arm of chromosome 17 (17q11) neurofibromatosis type 1
Name two genetic mechanisms that can lead to either Angelman syndrome or Prader Willi. Genomic imprinting or uniparental disomy.
Created by: christinapham



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