Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

Stéphane Moutereau1, Rémy Narwa, Catherine Matheron

  • 1Service de Biochimie et Génétique Moléculaire, and Institut National de la Santé et de la Recherche Médicale, INSERM U468, Hôpital Henri Mondor, Créteil, France.

Human Mutation
|May 18, 2004
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A Rare Case of Homozygous HbE With Coinherited Alpha-Thalassemia and Hb Constant Spring in a Neonate Reveals a Mild Hematologic Phenotype.

Journal of pediatric hematology/oncology·2026
Same author

A Novel Plasma Heme Assay Reveals Disease Severity in Beta-Thalassemia and Sickle Cell Anemia.

American journal of hematology·2026
Same author

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Journal of the peripheral nervous system : JPNS·2026
Same author

Carbon monoxide treatment rescues leukofiltration and preserves storage quality of red blood cell concentrates from sickle cell trait donors.

Transfusion·2026
Same author

[Glucose-6-phosphate dehydrogenase variants: new WHO classification (2024)].

Annales de biologie clinique·2025
Same author

Comprehensive analysis of sickle β<sup>+</sup>-thalassemia genotypes and their associated HbA levels in France.

Blood cells, molecules & diseases·2025

This study introduces an improved DNA chip method for detecting familial Mediterranean fever (FMF) mutations. The new technique is accurate, reproducible, cost-effective, and suitable for clinical laboratory use.

Area of Science:

  • Molecular Biology
  • Genetics
  • Medical Diagnostics

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive disease requiring early diagnosis to prevent complications.
  • High-throughput genotyping technologies like DNA chips offer improved detection of single-nucleotide polymorphisms (SNPs).

Purpose of the Study:

  • To develop and validate an improved NanoChip-based method for detecting frequent mutations in the familial Mediterranean fever (FMF) gene (MEFV).
  • To enhance the existing NanoChip procedure for greater cost-effectiveness and reproducibility in clinical settings.

Main Methods:

  • Adaptation of NanoChip microelectronic array technology for FMF mutation analysis.
  • Development of a universal reporter strategy to replace costly dye-tagged reporters.

Related Experiment Videos

  • Validation of the assay using FMF, factor V (F5), and factor II (F2) genotyping, comparing results with DGGE, SSCP, and RFLP analysis.
  • Assessment of cartridge reusability for sequential mutation analysis and interference monitoring.

    • Main Results:

    • The improved NanoChip assay demonstrated high accuracy and reproducibility, with results fully concordant to established genotyping methods.
    • The universal reporter strategy proved effective and validated on other diagnostic assays.
    • NanoChip cartridges could be reliably rehybridized multiple times, enabling sequential analysis.
    • Cost analysis indicated the assay is feasible for clinical implementation at a reasonable expense.

    Conclusions:

    • The developed NanoChip assay provides an accurate, reproducible, and cost-effective method for FMF mutation detection.
    • This improved technique is suitable for routine clinical laboratory implementation, aiding in the early diagnosis of FMF.
    • The universal reporter strategy and cartridge reusability represent significant advancements for microarray-based genetic testing.