Related Experiment Video
Updated: Jul 27, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
[DNA analysis in heterozygotes in familial hypercholesterolemia]
Casopis Lekaru Ceskych
|April 19, 1995
Summary
Clinical diagnosis of familial hypercholesterolemia (FH) is challenging. DNA analysis, including LDLR and ApoB gene testing, offers a progressive approach for accurate FH and familial defective apolipoprotein B-100 (FDB) diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Disease Research
Background:
- Clinical diagnosis of familial hypercholesterolemia (FH) heterozygotes has limitations.
- A progressive diagnostic approach integrating DNA analysis is needed.
Purpose of the Study:
- To demonstrate the utility of DNA analysis for diagnosing FH.
- To analyze the low-density lipoprotein receptor (LDLR) gene and apolipoprotein B (ApoB) gene.
- To compare findings with data from other populations.
Main Methods:
- Restriction fragment length polymorphism (RFLP) analysis of the LDLR gene in 52 FH patients and 37 controls.
- Polymerase chain reaction (PCR) to detect specific point mutations (Pro664-Leu, Val408-Met) in the LDLR gene.
- PCR analysis of the ApoB gene to identify familial defective apolipoprotein B-100 (FDB).
Main Results:
- LDLR gene RFLP frequencies were determined for both FH patients and healthy individuals.
- No Pro664-Leu or Val408-Met mutations were found in FH patients; however, a 110bp insertion in the LDLR gene was identified in two patients.
- The first DNA diagnosis of FDB in the Czech Republic was performed, detecting FDB in 3.8% of FH patients.
Conclusions:
- LDLR gene RFLP and FDB frequencies in the study cohort align with those in other Caucasian populations.
- DNA analysis serves as a valuable complementary tool for FH diagnosis.
- DNA analysis is essential for the definitive detection of FDB.
More Related Videos
Related Concept Videos
01:11Genetic Lingo
Overview
01:35Pedigree Analysis
Overview
02:41Lethal 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...
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...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Pharmacogenomics: 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...