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Related Concept Videos

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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Updated: Jun 21, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a

M Bednarska-Makaruk1, M Bisko, M F Pulawska

  • 1Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. makaruk@ipin.edu.pl

European Journal of Human Genetics : EJHG
|January 10, 2002
PubMed
Summary

The familial defective apolipoprotein B-100 (FDB) Arg3500Gln mutation is present in 3.7% of hypercholesterolemic Polish subjects, suggesting a common European origin. This genetic finding has implications for understanding hypercholesterolemia in the Polish population.

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Molecular Biology

Background:

  • Familial defective apolipoprotein B-100 (FDB) is a genetic cause of hypercholesterolemia.
  • The Arg3500Gln mutation in apolipoprotein B (apoB) is a common cause of FDB in Caucasian populations.
  • Understanding the prevalence of FDB mutations in specific populations is crucial for genetic screening and risk assessment.

Purpose of the Study:

  • To determine the prevalence of the FDB Arg3500Gln mutation in a cohort of 525 hypercholesterolemic Polish subjects.
  • To analyze the clinical and lipid profiles of mutation carriers and their relatives.
  • To investigate the potential origin of the mutation and identify any novel mutations.

Main Methods:

  • Screening of DNA samples using Single-Strand Conformation Polymorphism (SSCP) method.
  • Confirmation of mutation presence via mismatch MspI PCR strategy.
  • Analysis of plasma lipid levels and clinical characteristics of mutation carriers and affected relatives.

Main Results:

  • The prevalence of the FDB Arg3500Gln mutation was found to be 3.7% in hypercholesterolemic Polish subjects.
  • Affected individuals exhibited variable expression of lipid concentrations and atherosclerosis symptoms.
  • The estimated prevalence in the general Polish population is approximately 1 in 250, considered relatively high.
  • A common haplotype at the apoB locus among Polish carriers suggests a shared origin with Western European populations.
  • A novel mutation, apoB Thr3492Ile, was identified in one hypercholesterolemic subject.

Conclusions:

  • The prevalence of the FDB Arg3500Gln mutation in Polish hypercholesterolemic individuals is comparable to other Caucasian populations.
  • The mutation's presence and associated haplotype suggest a common ancestral origin.
  • The study identified a novel apoB gene mutation, expanding the known spectrum of genetic defects causing hypercholesterolemia.