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Pharmacogenetics 2
Biochem Final
| Question | Answer |
|---|---|
| Value of Pharmacogenomics? | Potential to optimize drug therapy, personalize medicine using novel technologies, optimize drug development |
| What is a polymorphism? | A variation in DNA sequence |
| DNA variation with <1% of population is known as a? | Mutation |
| DNA variation with > 1% of the population known as a? | Genetic Polymorphism |
| Types of Polymorphism? | SNP (single nucleotide polymorphism) |
| What can be affected by the polymorphism? | Enzyme, transporter, receptor and disease |
| Polymorphism relevance to drugs? | may affect drug PK or PD resulting in changes of dosing, efficacy and toxicity. May have no effect on a drug |
| Polymorphism relevance to disease? | Increase or decrease disease susceptibility. Used for screening and diagnosing |
| What is an Allele? | Variant (and wild type)changes on a particular location of a chromosome, each nucleotide base in the gene can be considered as an allele |
| Humans are__________organism | Diploid |
| Humans have ________ copies of every chromosome | 2 and thus have 2 copies of the same gene |
| One allele form is from your ______ and ______ | Mother and Father |
| The first few letters/numbers of VKORC1 identify what? | the gene |
| Numbers of VKORC1 C>T indicate what? | the location of the nucleotide on the gene |
| The letter C and T of VKORC1 C>T represents what? | which is the wild type allele and variant allele |
| Among the letters C>T of VKORC1 C>T the C and T represents what? | The first letter C represents the original nucleotide (wild type) and the second letter T represents the nucleotide that has changed b/c of SNP |
| The star and number after the gene CYP2C19 *1 designates what? | the allele |
| Relevance is what? | The function of the gene depends on the allele |
| The relevance of gene CYP2C19 with *1____*2_____*3____ means | 1* = normal (wild type)activity 2* = no enzyme activity 3* = no enzyme activity |
| The relevance of gene CYP2C9 with *1____*2____*3____ means | 1* = normal (wild type)activity 2* = decreased enzyme activity 3* = decreased enzyme activity |
| Allele nomenclature can look exactly the ____________ but have __________ functional effects based the protein | same, different |
| What is the single database for all genetic variation information? | dbSNP (SNP database) |
| In genotype nomenclature each individual carries ___ allele of each gene. The allele carries the persons ______ | 2, genotype |
| A set of alleles at multiple areas of a gene that co-exist on the same chromosome | haplotype |
| Linkage disequilibrium is what? | when a high frequency of allele coexist by random chance |
| True of False SNP will always alter protein synthesis? | False it may or may not |
| SNP is a ______ base substituion within a gene | single |
| Coding types of SNP | synonymous, non-synonymous and premature stop codon |
| Other polymorphism types besides SNP | gene deletion and copy number variant |
| GReference or ‘wild type’ nucleotide sequence GTG TCA CAG GAA GAG ATC Subsequent amino acid sequence Val Ser Gln Glu Glu Ile P-glycoprotein polymorphism – nucleotide sequence GTG TCA CAG GAA GAG ATT Subsequent amino acid sequence Val Ser Gln Glu Gl | Synonymous no clear consensus if there is an effect (only one nucleotide has changed) |
| Reference or ‘wild type’ nucleotide sequence GCA TTA AAG TTA TAT CTA Subsequent amino acid sequence Ala Leu Lys Leu Tyr Leu TPMT*3A polymorphism – nucleotide sequence ACA TTA AAG TTA TGT CTA Subsequent amino acid sequence Thr Leu Lys Leu Cys Leu | Non-synonymous functional effect, decreased TPMT enzyme activity. There are 2 nucleotide changes |
| Reference or ‘wild type’ nucleotide sequence ACC CCC TGG ATC CAG Subsequent amino acid sequence Thr Pro Trp Ile Gln CYP2C19*3 polymorphism – nucleotide sequence ACC CCC TAG ATC CAG Subsequent amino acid sequence Thr Pro STOP - - | Pre-mature stop codon SNP, no enzyme activity |
| Affected drugs of synonymous SNP | Efavirenz, Cyclosporine |
| Affected drugs of Non-synonymous SNP | Azathioprine, 6-mercaptopurine |
| Affected drugs of Pre-mature stop codon | Proton Pump Inhibitors (Omeprazole, Lansoprazole) |
| Gene deletion of CYP2D6 delete ______ of nucleotide BP that comprise CYP2D6 gene | thousands, lead to loss of function and results in poor metabolizer |
| affected drugs of deletion of CYP2D6 gene | SSRIs, tamoxifen, codeine, β-blockers |
| Copy Number Variant CYP2D6 leads to what? | extra copies of the gene, results in rapid metabolizer penotype |
| affected drugs of copy number variant | SSRIs, tamoxifen, codeine, β- blockers |
| Infectious disease caused by Abacavir leads to what? | Hypersensitivity reaction |
| HSR symptoms includes what? | fever, rash, GI and respiratory symptoms and general malaise |
| Population prevalence of abacavir use? | Whites 5-8% and Asians 0-2% hispanic 1% and Blacks 0.5% |
| Abacavir clinical relevance of dosing is ____ affected by pharmacogenomic but ______ may be affected | not, drug selection |
| True or false, Abacavir had a lot of literature on how pharmacogenomics impacts drug efficacy | False, it has none |
| Abacavir clinical relevance of Toxicity confirmed that HSR was __ vs __ percent in the control vs screened patients | 2.7, 0 |
| What was the gene they were studying for Abacavir? | HLA-B*5701 |
| SHAPE study showed the toxicity level of HLA-B*5701 was ___ for blacks and whites and did so by ___ patch testign | same, skin |
| ARIES study investigated HLA-B*5701 negative patients and ___ had HSR and ___ had positive skin patch test | <1%, none |
| Abacavir genomic test of HLA typing indicated taht positive test for HLAB*5701 indicated ____ of HSR | increase |
| Abacavir genomic test showed that those who were HLA-B*5701 negative were _____ to have HSR and those positive were ____ to have HSR | <1%, >70% |
| Patients screened positive for HLAB*5701 should ____ be prescribed for abacavir | not |
| What is included in the black box warning? | screenig for HLA-B*5701 |
| What are the ethical issues with pharmacogenetics? | Loss of privacy, who to test on, distribution of justice, prevention strategies and clinical decisions |
| Problems with deciding who to test includes? | genetic profiling, discrimination/staigmatization |
| Problems with distributive justice includes? | distribution of benefits to all patients |
| Problems with prevention strategies includes? | deciding prevention to be genotypic or phenotyipic |
| Problems with clinical decisions include? | should test be carried out, what to do with the results |
| GINA of 2008 acts protects americans against discrimination based on? | genetic information |
| Social issues of pharmacogenetics? | social, employment, insurance, societal benefits and burdens, mandatory versus voluntary screening |
Created by:
J-X