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genetics pt2
exam 3
| Question | Answer |
|---|---|
| hardy weinberg law | describes allele frequencies and genotype frequencies |
| hardy weinberg assumptions | individuals of all genotypes have equal rates of survival and reproductive success, no new alleles are created or converted by mutation, individuals do not migrate out of a population, random mating |
| cause of genetic variation in populatiosn | variants (mutation) |
| variants may be? | harmful or beneficial |
| natural selection increases frequencies of? | positive mutations and decreases frequencies of those that are negative |
| variability- difference in the phenotype of the dogs | dogs have higher degree of variation |
| how do you know if a sample is in equilibrium? | p^2+2pq+q^2=1; chi square for confirmation |
| what does the chi square value have to be to accept the hypothesis that there is a difference? | 0.05 |
| What does it mean if chi square result is >0.05? | there has not been deviations of allele frequency from the population |
| genetic drift | a random change in allele frequencies in a population due to chance, not selection |
| when can a drift be observed? | in small populations when there is a large change in allele frequency across generations |
| given random mating, what happens in a large population? | allele frequencies stay relatively stable |
| given random mating, what happens in a small population? | allele frequencies can change quickly |
| potential causes of genetic drift | founder effect, population bottleneck, small population size |
| founder effect | small group of individuals breaks off from a large population and establishes a new population |
| example of founder effect | amish feeling from europe to lancaster |
| bottleneck effect | happens when a population experiences a sudden, severe reduction in size and their allele frequencies differ from the original population |
| phenotype | observable traits of an organism-> expression of genes |
| what kind of genetic testing is used for mantle cell lymphoma? | PCR |
| Mantle cell lymphoma | aggressive B-cell malignancy |
| effect of rituximab on covid-19 in patients with MCL | depletes B-cells and impairs humoral immunity, making patients highly vulnerable to severe COVID-19 outcomes |
| mortality rate of pts with MCL who develop COVID? | 44% |
| why are patients on rituximab so vulnerable to COVID 19? | impaired antibody productions and vaccine response, reliance on t cell immunity and passive immunization |
| impaired antibody production and vaccine response due to MCL being treated with rituximab | B cells are crucial for producing antibodies that help neutralize viruses, patients have a reduced response to vaccine |
| reliance on t cell immunity and passive immunization due to MCL being treated with rituximab | B cell depletion limits antibody production, these patients rely more on T cell mediated immunity to fight infections |
| do T cells provide same level of protection as antibodies? | no |
| What is PCR? | lab technique used to amplify DNA, uses small amounts of DNA |
| steps of PCR | denaturation, annealing, extension |
| denaturation | heat separates dsDNA-> ssDNA |
| annealing | primers bind to specific target sequences on each strand |
| extension | DNA polymerase adds nucleotides to extend from the primers, creating new DNA strands |
| What does PCR amplification require? | double stranded target DNA, DNA polymerase, Mg2+, four deoxyribonucleoside triphosphates (ATCGs), primers |
| Mg2+ | cofactor of DNA polymerase |
| PCR primers | short, single stranded sequences, 1 complementary to 5' end, other to 3' end-> PALINDROME |
| If MCL does not respond to first line therapy or relapse occurs what do they often move to? | HDAC inhibitors |
| HDAC | histone deacetylase, causes chromatin to become tightly packed -> gene silencing |
| HDAC inhibitor | increases gene expression by preventing removal of acetyl groups from histone proteins-> opens chromatin |
| Mantle Cell lymphoma hallmark translocation | t(11;14) |
| ROS issue mantel cell lymphoma | translocation leads to over expression of Cyclin D1 which drives G1-> S phase of cell cycle progression, leading to uncontrolled B cell proliferation |
| what does more mitochondrial activity lead to? | more ROS activity |
| protesome inhibitor | prevents degredation of ubiquitin-tagged proteins, leading to accumulation of pro-apoptotic factors like p53 |
| proteosome | responsible for degrading damaged, misfolded, or unneeded proteins |
| how does TPMT work? | adds methyl group to sulfhydryl group on the drug or its metabolites |
| what does TPMT do? | decreases concentration of the active drug metabolites (thioguanine nucleotides) |
| TPMT acts indirectly to? | decrease effective dose of the drug |
| TPMT case study | drug can either be converted to the active form or TGN nucleotides can be inactivated with TPMT |
| What do you want TPMT to do? | remove drug as waste |
| what kind of genetic testing for TPMT? | TPMT gene variant testing |
| difference in the two girls being treated for Acute Lymphocytic Lymphoma | the drug worked on beth (fever, viral) but did not work on laura (bruising) |
| Beth is ____ for the TPMT gene | homozygous dominant |
| Laura is ____ for the TPMT gene | homozygous recessive |
| How is ALL treated? | thiopurine drugs, pro drugs, guanine analogs |
| pro drugs | must be converted to the active form in the body |
| guanine analogs | act like guanine but disrupts DNA and RNA synthesis |
| what do guanine analogs act on? | rapidly dividing (cancer) cells but also gi, skin, hair follicles, bone marrow |
| narrow therapeutic index | dose to affect cancer cells is not much higher than toxic dose |
| toxic dose | decreased ability of bone marrow to make blood cells (myelosuppression) |
| multi-variant afffect in TPMT | TPMT3A- dose reduction required, TPMT3B, TPMT3C- normal dose |
| TPMT3A half life | .25 |
| TPMT3B half life | 6.1 |
| TPMT3C half life | 18 |
| what variant of TPMT has the most severe effects? | TPMT3A |
Created by:
camrynfoster