Zusammenfassung der Ressource
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Pharmacogenetics is study of inherited genetics [blank_start]difference[blank_end] in drug [blank_start]metabolic[blank_end] pathways which can affect [blank_start]individual[blank_end] responses to drugs, both in terms of therapeutic effect as well as adverse effects
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difference
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sameness
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metabolic
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pharmacokinectic
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individual
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ethnic group's
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Nearly [blank_start]90%[blank_end] of general population have CYP2D6 functional duplication allele
o [blank_start]10%[blank_end] has inactive copies of CYP2D6 = codeine has no analgesic effect
o [blank_start]2-5%[blank_end] ultrarapid metabolizer
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90%
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80%
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70%
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10%
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20%
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5%
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2-5%
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5-10%
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10-15%
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Codeine is metabolized by an enzyme that is genetically regulated called CYP2D6 in the liver that turns codeine into morphine
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CYP2D6 is responsible for the metabolism of which drugs
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Analgesics
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BB
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CCB
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Antidepressants
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Antispsychotics
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The CYP2C19 metabolizes which drugs
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Plavix (clopidogrel)
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Coumadin (warfarin)
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Dabigatran (Pradaxa)
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Apixaban (Eliquis)
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GeneSight Tests for
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ADHD
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Analgesic
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MTHFR
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Psychotropic
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Anticoagulants
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genetic constitution, alleles present at one locus
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manifestation of genes
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phenotypic differences
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proportion of heterozygous population expressing the phenotype
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genetic constitution, alleles present at one locus
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manifestation of genotype
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phenotypic differences in same genotype
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proportion of heterozygous population expressing the phenotype
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Variable expressivity is
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genetic constitution, alleles present at one locus
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manifestation of genotype
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phenotypic differences in same genotype
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proportion of heterozygous population expressing the phenotype
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genetic constitution, alleles present at one locus
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manifestation of genotype
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phenotypic differences in same genotype
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proportion of heterozygous population expressing the phenotype
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Autosomal dominant inheritance
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Required one copy of gene mutation to express the associated condition
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Phenotype is expressed in person heterozygous for a particular allele
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Requires two copies of gene mutation (one from each parent) to manifest the condition
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Phenotypes is expressed in person homozygous for a particular allele
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Autosomal recessive:
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Requires one copy of gene mutation to express the associated condition
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Phenotype is expressed in person heterozygous for a particular allele
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Requires two copies of gene mutation (one from each parent) to manifest the condition
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Phenotypes is expressed in person homozygous for a particular allele
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Breast cancer is [blank_start]5 - 10%[blank_end] hereditary
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5 - 10%
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0 - 5%
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10 - 15%
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15 - 20 %
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Which a mutation in which BRCA gene has a 40% lifetime risk for ovarian cancer
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Tamoxifen is metabolized by
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Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin
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Amsterdam II criteria for HNPCC/Lynch Syndrome includes 3 relatives with CRC (colorectal cancer) and other HNPCC cancer in the family. Select the HNPCC cancers:
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Hepatic
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Colon
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Endometrium
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Small bowen
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Pancreatic
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Renal pelvis
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Pharmacogenetics is the study of _________