Genomics and GWAS Quiz

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Questions and Answers

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

Enhanced muscle growth
Increased risk of developing cancer
Protein alteration may occur (correct)
Decreased sensitivity to pain

How does Thiopurine S-methyltransferase (TPMT) activity affect the efficacy of 6-MP drug?

It enhances the drug's potency
It has no impact on the drug's efficacy
It reduces the drug's toxicity
It affects the drug's efficacy based on metabolism rate (correct)

What is the function of Herceptin (trastuzumab) in relation to the aberrant Her-2 gene?

It inhibits the normal functioning of the gene
It blocks the overexpressed cell surface receptor (correct)
It enhances the expression of the aberrant gene
It has no impact on the gene

What is the role of Cytochrome oxidase P450 enzymes in drug metabolism?

Responsible for metabolizing most clinically important drugs (B) Signup and view all the answers

What is the potential implication of personalized genomic medicine?

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

What is the main concern associated with genomic testing according to the text?

Possibility of genetic discrimination (B) Signup and view all the answers

What is the basis for human genetic diversity as mentioned in the text?

Single nucleotide polymorphisms (SNPs) (C) Signup and view all the answers

What is the purpose of DNA fingerprinting as mentioned in the text?

Scanning of marker regions that vary from person to person (A) Signup and view all the answers

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

13 (D) Signup and view all the answers

What is the role of copy number variation (CNV) in human genetic diversity?

It represents regions with varying copies of DNA segments (B) Signup and view all the answers

What is the potential application of human genetic diversity in forensics?

DNA fingerprinting for identification (A) Signup and view all the answers

What does GWAS stand for?

Genome-wide association studies (D) Signup and view all the answers

What is the main focus of pharmacogenomics?

Influence of genetic variation on drug response (B) Signup and view all the answers

What is the difference between pharmacogenomics and pharmacogenetics?

Pharmacogenomics deals with genome-level influence on drug response, while pharmacogenetics focuses on single gene targets (B) Signup and view all the answers

What is the purpose of genotyping chips in the context of GWAS?

To analyze genetic variations across the genome (A) Signup and view all the answers

What is the main concern regarding some GWAS findings?

They do not explain heritability (A) Signup and view all the answers

What is the focus of pharmacogenetics?

Influence of genetic variation on drug response at the single gene level (C) Signup and view all the answers

What is the primary concern with rare variants in the context of GWAS?

They are not covered by GWAS, as every family may have its own mutation (C) Signup and view all the answers

What is the aim of precision/personalized medicine in the context of GWAS?

To tailor medical treatment based on an individual's genetic profile (A) Signup and view all the answers

What is the significance of SNPs in the context of GWAS?

They can disrupt the regulation of genes expressed in diseased states (C) Signup and view all the answers

What is the primary focus of twin studies in the context of GWAS?

To assess the heritability of specific traits or diseases (D) Signup and view all the answers

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Study Notes

Genomics and Pharmacogenomics Overview

Genome-wide association studies (GWAS) examine SNPs to understand gene regulation in diseases like diabetes type 2
GWAS identify common genetic variants, but not all heritability is explained, especially in complex diseases like diabetes
Pharmacogenomics aims to predict drug response based on genetic variation for personalized treatment
SNPs can alter protein function, affecting drug efficacy, such as in asthma patients with SNPs in the GLCC1 gene
Pharmacogenomics has applications in modifying drug dosage or prescribing alternative drugs for personalized treatment
Examples of pharmacogenomics applications include 6-MP for acute lymphoblastic leukemia and Trastuzumab for Her-2 gene variants
Cytochrome P450 enzyme variants can affect drug metabolism and response, influencing personalized medicine
Personalized genomic medicine is based on individual genome for medical care, with implications for precision medicine and consumer genomics
The Filipino Genome Research Project aims to study the genomic diversity among ethnolinguistic groups in the Philippines
Genomic testing raises concerns about education, insurance coverage, unwanted information, and genetic discrimination
Genetic polymorphisms include single nucleotide polymorphisms (SNPs) and copy number variations (CNV), which contribute to human genetic diversity
DNA fingerprinting uses genetic variations for identification and forensics, with a minimum number of loci required for accurate testing.