Genomics: GWAS and Genotyping Quiz

Play an AI-generated podcast conversation about this lesson

What is the focus of pharmacogenomics?

Regulation of miRNA-encoding genes

Genotyping chip precision

Influence of genetic variation on drug response (correct)

The study of rare variants

Which type of diseases are associated with single gene disorders?

Complex multifactorial diseases

Hypercholesterolemia

Cystic fibrosis (correct)

Diabetes

What is the potential problem with some GWAS findings?

They lack statistical power

They are unable to identify rare variants

They do not explain heritability (correct)

They focus solely on single gene disorders

What is the main difference between pharmacogenomics and pharmacogenetics?

Pharmacogenomics focuses on genome-level influence on drug response, while pharmacogenetics targets single genes Signup and view all the answers

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 Signup and view all the answers

In what percentage of the population do naturally occurring SNPs exist?

1% Signup and view all the answers

Which study type is used to explore the missing heritability in genetic studies?

Twin studies Signup and view all the answers

What is the focus of genome-wide association studies (GWAS)?

Identifying common variants associated with complex multifactorial diseases Signup and view all the answers

What do rare variants refer to in the context of genetic studies?

Variants not covered by GWAS present in specific families Signup and view all the answers

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 Signup and view all the answers

What does GWAS stand for in genetic research?

Genome-Wide Association Studies Signup and view all the answers

Which branch of pharmacology aims to predict personalized treatment based on genome sequence/expression profile?

Pharmacogenomics Signup and view all the answers

Which enzyme is responsible for metabolizing most clinically important drugs?

Cytochrome oxidase P450 enzymes Signup and view all the answers

What is the effect of aberrant Her-2 gene?

Overexpression of cell surface receptor required for cell growth Signup and view all the answers

What is the implication of personalized genomic medicine?

Each person’s individual genome will be part of their medical care Signup and view all the answers

What is the function of Trastuzumab (Herceptin)?

Blocks the surface receptor given that you have the aberrant Her-2 gene variant Signup and view all the answers

What is the significance of SNPs in the GLCC1 gene for asthma patients?

May lead to patients being sensitive to steroids Signup and view all the answers

What type of polymorphism is a single base variation?

Single nucleotide polymorphism (SNP) Signup and view all the answers

Which type of polymorphism involves variations in regions of DNA that involve multiple copies of genes?

Copy number variation (CNV) Signup and view all the answers

What is the minimum number of STRs required for DNA fingerprinting in forensics?

13 Signup and view all the answers

What does CODIS stand for in DNA forensics?

Combined DNA Index System Signup and view all the answers

What type of genetic marker is inherited from father to son?

Y chromosome Signup and view all the answers

What factor may not be included in consumer genetics reports when assessing disease risk?

Environmental factors Signup and view all the answers

What effect does TPMT activity have on the drug 6-MP for acute lymphoblastic leukemia?

Affects drug efficacy and dosage requirement Signup and view all the answers