Term
| germline vs somatic mutation |
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Definition
germline- most serious, passed on
somatic- molecular basis for cancer |
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Term
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Definition
| chemotheraoeutic. generates oxidative free radicals that cause DNA double strand breaks |
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Term
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Definition
| errors in NER. can't repair T-T dimers. |
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Term
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Definition
| acts on topoisomerase II- inhibition of ligase (anthracycline- forms tripartite complex with DNA). leads to double strand breaks which leads to cell death |
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Term
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Definition
| inhibits bacterial topoisomerase II (antibiotic) |
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Term
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Definition
| inhibits bacterial topoisomerase II (antibiotic) |
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Term
| Huntingson, Myotonic dystrophy, Fragile X syndrome |
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Definition
| triplet expansion caused by insertion/deletion leading to frameshift mutation (fs.mut.responsible for 25% of genetic diseases) |
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Term
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Definition
| no mature sperm cells- no synaptonemal complex (pairs maternal and paternal homologs together). no meiosis I |
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Term
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Definition
| dwarfism, immunodeficiency, decreased fertility. mutation in BLM gene that encodes for DNA helicase. Replication fork progression delayed, also perturbs homolog recombination |
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Term
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Definition
| heritable cancer syndrome. 80% chance of developing cancer. defects in mismatch repair system due to mutations in MLH1 or MLH2. microsatellite instability |
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Term
| cytarabine (Cytosar, Tarabine) |
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Definition
| Treats Leukemia- analogue of cytidine with arabinose. Active cytarabine tri-phosphate competes with deoxyribonuclease for DNA polymerase binding. Replication and repair blocked |
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Term
| Cyclophosphamide (Cytoxan, Neosar) |
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Definition
| Hodgkin's, lung, breast cancer. Pro-drug- active phosphoramine mustard in liver. Bi-functional: alkylating agent- forms DNA cross-links, blocks replication, programmed cell death |
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Term
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Definition
| death cap mushroom. 90% of mushroom deaths. has alpha-amanitin- blocks RNA pol II- no mRNA synthesis |
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Term
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Definition
| antibiotic. produced by streptomycetes in soil. inhibitor of bacterial RNA polymerase |
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Term
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Definition
| incorrect splicing of beta unit for Hb. Less mature Hb- profound anemia. Beta '0' mut= destroyed normal acceptor at end of exon 2, uses cryptic splice, part of intron incorporated. Beta '+'= new acceptor site in intron 1 |
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Term
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Definition
| lack of phenylalanine dehydroxylase. mutation in gene that codes for it- 5' splice donor site base change- incorrect splicing- truncated protein- rapidly degraded. |
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Term
| Rubenstein-Taybi Syndrome |
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Definition
| pt mutation/small deletion/rearrangement in gene that codes for CBP, an activating protein (functions as a HAT) in gene for phosphoenolpyruvate carboxykinase |
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Term
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Definition
| competitive inhibitor of estrogen receptor in DNA binding. Binds, doesn't recruit more proteins- no transcription of estrogen sensitve genes. Treatment for breast cancer |
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Term
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Definition
| antibiotic. binds small subunit of ribosome |
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Term
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Definition
| antibiotic. binds ribosome/mistranslation of codons |
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Term
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Definition
| Antibiotic. blocks A site |
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Term
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Definition
| antibiotic. prevents peptide bond formation |
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Term
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Definition
| removes adenine base in carious spost of large subunits in eukaryotic cells. leads to death |
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Term
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Definition
| inactivates EF-2 by ADP-Ribosylation in eukaryotic cells |
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Term
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Definition
| congential glycosylation disorders. impairs N-linked glycosylation of proteins, prevents secretion, impairs extracellular enzymatic reactions. presents with severe symptoms- hypotonia, hypoglycemia |
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Term
| Scurvy, Ehlers Danlos, Osteogenesis |
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Definition
| collagen deficiency. failure to hydroxylate proline |
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Term
| multiple sulfatase deficiency (MSD) |
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Definition
| failure to convert cysteine to aldehyde to c-alpha-formylglycine which is needed for lysosomal sylfatases. |
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Term
| deafness-dystonia syndrome |
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Definition
| mitochondrial disorder. no TIM- no cell engery production, no func. mitochondria |
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Term
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Definition
| protein sorting disorder. deletion of 1 codon from CFTR1- gene interferes with folding- sent to cytosol and degraded |
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Term
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Definition
| transfer of phosphate to mannose impaired. missing signal for lysosome destination-lysosome function function impaired- accumulation of undegraded proteins. can see dense bodies of nonfunc lysosome in fibroblasts, lysosomal proteins in serum |
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Term
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Definition
| autosomal recessive disorder- ATM (protein for signaling radiation damage to DNA) mutated. p53 not activated- no apoptosis |
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Term
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Definition
| translocation of chromosomes 8 and 14 (mys to 14 next to immunoglobulin protein), over produced- DNA replication unregulated. most leukemias and lymphomas have translocation. tumors can also activate myc by gene amplication |
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Term
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Definition
| mutation in BRCA1 or BRCA 2. double strand break repair |
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Term
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Definition
| viral protein E6 binds p53, inhibits |
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Term
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Definition
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Term
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Definition
| inherited: mution in RB1 gene. with additional mutation in somatic allele- no funcional Rb- tumor in both eyes. Sporadic- 2 somatic mutations in same retinal cell. tumor in one eye, later. |
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Term
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Definition
| chronic myeloid leukemia. phil.chromo: reciprocal translocation between 9 and 22. effusion of two genes: BCR ad ABL. ABL codes for tyrosine kinase that normally regulates apoptosis. BCR-ABL fusion- constitutively active protein kinase and cell division. Imatinib mesylate is TK inhibitor. |
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Term
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Definition
| autosomal dominant mutation in APC gene- develop polyps. loss of 2nd allele- adenomatious polyp- carcinoma. also lose k-Ras, DCC, p53 |
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Term
| non-small cell lung cancer |
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Definition
| mutation in gene for EGF receptor. respond well to TK inhibitor gefitnib |
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