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Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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This study reviews pharmacogenomics, focusing on single-nucleotide polymorphisms (SNPs) and their detection. It compares various genotyping technologies for drug response and disease susceptibility research.

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Molecular Biology

Background:

  • Pharmacogenomics investigates genetic variations influencing drug response and disease susceptibility.
  • Single-nucleotide polymorphisms (SNPs) are the most common human genetic variations.
  • Understanding these variations is crucial for personalized medicine.

Purpose of the Study:

  • To provide an overview of various genotyping technologies for SNP detection.
  • To emphasize recently developed methodologies in SNP analysis.
  • To compare the advantages, applicability, cost-efficiency, and limitations of different genotyping methods.

Main Methods:

  • Review of established techniques like PCR, mass spectrometry, and sequencing.
  • Exploration of innovative technologies including fluorescence resonance energy transfer and microarrays.
  • Discussion of factors influencing technique selection, such as SNP number and sample size.

Main Results:

  • Multiple novel approaches for SNP detection are available.
  • Technique selection depends on the scale of the study (number of SNPs and sample size).
  • A comparative analysis of emerging and conventional genotyping methods is presented.

Conclusions:

  • The chapter offers a comprehensive comparison of genotyping technologies.
  • It highlights the importance of selecting appropriate methods for SNP screening in pharmacogenomics.
  • This review aids researchers in choosing cost-effective and efficient genotyping strategies.