21 Questions
What is the effect of SNPs in the GLCC1 gene for asthma patients?
Protein alteration may occur
How does Thiopurine S-methyltransferase (TPMT) activity affect the efficacy of 6-MP drug?
It affects the drug's efficacy based on metabolism rate
What is the function of Herceptin (trastuzumab) in relation to the aberrant Her-2 gene?
It blocks the overexpressed cell surface receptor
What is the role of Cytochrome oxidase P450 enzymes in drug metabolism?
Responsible for metabolizing most clinically important drugs
What is the potential implication of personalized genomic medicine?
Each person’s individual genome will be part of their medical care
What is the main concern associated with genomic testing according to the text?
Possibility of genetic discrimination
What is the basis for human genetic diversity as mentioned in the text?
Single nucleotide polymorphisms (SNPs)
What is the purpose of DNA fingerprinting as mentioned in the text?
Scanning of marker regions that vary from person to person
What is the minimum number of STRs used in DNA fingerprinting in forensics?
13
What is the role of copy number variation (CNV) in human genetic diversity?
It represents regions with varying copies of DNA segments
What is the potential application of human genetic diversity in forensics?
DNA fingerprinting for identification
What does GWAS stand for?
Genome-wide association studies
What is the main focus of pharmacogenomics?
Influence of genetic variation on drug response
What is the difference between pharmacogenomics and pharmacogenetics?
Pharmacogenomics deals with genome-level influence on drug response, while pharmacogenetics focuses on single gene targets
What is the purpose of genotyping chips in the context of GWAS?
To analyze genetic variations across the genome
What is the main concern regarding some GWAS findings?
They do not explain heritability
What is the focus of pharmacogenetics?
Influence of genetic variation on drug response at the single gene level
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
What is the aim of precision/personalized medicine in the context of GWAS?
To tailor medical treatment based on an individual's genetic profile
What is the significance of SNPs in the context of GWAS?
They can disrupt the regulation of genes expressed in diseased states
What is the primary focus of twin studies in the context of GWAS?
To assess the heritability of specific traits or diseases
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.
Test your knowledge of genomics and genome-wide association studies (GWAS) with this quiz. Explore topics such as SNPs for miRNA-encoding gene, genotyping chips, precision/personalized medicine, 23andMe, single gene disorders like cystic fibrosis, and complex multifactorial diseases.
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