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Related Concept Videos

Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Allergic Reactions

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Allergic Reactions: Anaphylaxis01:30

Allergic Reactions: Anaphylaxis

Anaphylaxis is a severe, life-threatening hypersensitivity reaction mediated by Immunoglobulin E (IgE) antibodies. When IgE binds to allergens, it triggers the release of mediators– histamine, leukotrienes, and prostaglandins from mast cells and basophils. These mediators cause vasodilation, edema, and inflammation, leading to various symptoms.The primary allergens causing anaphylaxis include food items (e.g., peanuts, shellfish), drugs (e.g., penicillin, asparaginase, corticotropin, heparin),...
Repressible Operon: trp Operon01:21

Repressible Operon: trp Operon

The trp operon in Escherichia coli exemplifies a repressible operon. It regulates the synthesis of tryptophan through repressor-mediated transcriptional control and attenuation. This dual regulatory mechanism ensures tryptophan biosynthesis occurs only when needed, conserving cellular resources.Structure of the trp OperonThe trp operon consists of five structural genes (trpE, trpD, trpC, trpB, and trpA) that encode enzymes for tryptophan biosynthesis. These genes are transcribed as a single...

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Related Experiment Video

Updated: Jul 21, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Tryptase genetics and anaphylaxis.

George H Caughey1

  • 1Cardiovascular Research Institute and Department of Medicine, University of California at San Francisco, CA 94121, USA. George.Caughey@ucsf.edu

The Journal of Allergy and Clinical Immunology
|June 6, 2006
PubMed
Summary

Tryptase levels in the blood may reflect total mast cell content, with inactive pro-beta tryptase being a key indicator. Mature beta tryptase is useful for diagnosing anaphylaxis but can yield false results.

Area of Science:

  • Biochemistry
  • Immunology
  • Genetics

Background:

  • Tryptases, enzymes from mast cells and basophils, circulate in the bloodstream.
  • Human tryptases are encoded by multiple genes (alpha, beta, gamma, delta), with common alpha gene variations.
  • Alpha tryptase was previously thought to be the primary circulating form, but this is now contested.

Purpose of the Study:

  • To investigate the primary source and clinical utility of circulating tryptases.
  • To differentiate the roles of pro-beta tryptase and mature beta tryptase in health and disease states.

Main Methods:

  • Analysis of tryptase gene expression and protein levels.
  • Correlation of circulating tryptase levels with mast cell burden and anaphylaxis diagnosis.

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PCR Mutagenesis, Cloning, Expression, Fast Protein Purification Protocols and Crystallization of the Wild Type and Mutant Forms of Tryptophan Synthase

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Main Results:

  • Circulating tryptase levels are mainly composed of inactive pro-beta tryptase, not alpha tryptase.
  • Pro-beta tryptase levels may correlate with total body mast cell load.
  • Mature beta tryptase elevations are indicative of systemic anaphylaxis but can be unreliable.

Conclusions:

  • Inactive pro-beta tryptase is a more consistent marker of mast cell burden than previously thought.
  • Mature beta tryptase is a valuable diagnostic marker for anaphylaxis, but its interpretation requires caution due to potential false positives and negatives.