24 Questions
What is the focus of pharmacogenomics?
Influence of genetic variation on drug response
Which type of diseases are associated with single gene disorders?
Cystic fibrosis
What is the potential problem with some GWAS findings?
They do not explain heritability
What is the main difference between pharmacogenomics and pharmacogenetics?
Pharmacogenomics focuses on genome-level influence on drug response, while pharmacogenetics targets single genes
What is the role of SNPs in altering drug efficacy according to the text?
SNPs alter proteins and may decrease drug binding, resulting in drug inefficacy
In what percentage of the population do naturally occurring SNPs exist?
1%
Which study type is used to explore the missing heritability in genetic studies?
Twin studies
What is the focus of genome-wide association studies (GWAS)?
Identifying common variants associated with complex multifactorial diseases
What do rare variants refer to in the context of genetic studies?
Variants not covered by GWAS present in specific families
What is the role of epigenetic effects in heredity according to the text?
Heredity is not solely in the genome but also at the epigenetic level
What does GWAS stand for in genetic research?
Genome-Wide Association Studies
Which branch of pharmacology aims to predict personalized treatment based on genome sequence/expression profile?
Pharmacogenomics
Which enzyme is responsible for metabolizing most clinically important drugs?
Cytochrome oxidase P450 enzymes
What is the effect of aberrant Her-2 gene?
Overexpression of cell surface receptor required for cell growth
What is the implication of personalized genomic medicine?
Each person’s individual genome will be part of their medical care
What is the function of Trastuzumab (Herceptin)?
Blocks the surface receptor given that you have the aberrant Her-2 gene variant
What is the significance of SNPs in the GLCC1 gene for asthma patients?
May lead to patients being sensitive to steroids
What type of polymorphism is a single base variation?
Single nucleotide polymorphism (SNP)
Which type of polymorphism involves variations in regions of DNA that involve multiple copies of genes?
Copy number variation (CNV)
What is the minimum number of STRs required for DNA fingerprinting in forensics?
13
What does CODIS stand for in DNA forensics?
Combined DNA Index System
What type of genetic marker is inherited from father to son?
Y chromosome
What factor may not be included in consumer genetics reports when assessing disease risk?
Environmental factors
What effect does TPMT activity have on the drug 6-MP for acute lymphoblastic leukemia?
Affects drug efficacy and dosage requirement
Test your knowledge about genome-wide association studies (GWAS), genotyping, and the role of genetic variants in complex diseases. Explore topics such as precision medicine, single gene disorders, and the comparison between genotyping and sequencing.
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