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

Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system.

Katarina Lindroos1, Snaevar Sigurdsson, Karin Johansson

  • 1Department of Medical Sciences, Uppsala University, 75185 Uppsala, Sweden.

Nucleic Acids Research
|July 24, 2002
PubMed
Summary

Researchers developed a novel microarray assay for efficient single nucleotide polymorphism (SNP) genotyping. This method accurately quantifies allele frequencies in pooled DNA, aiding genetic studies of the type 1 interferon pathway.

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

Methylation and polygenic risk scores capture different features of systemic lupus erythematosus.

Rheumatology (Oxford, England)·2026
Same author

Plasmacytoid dendritic cells in systemic and cutaneous lupus erythematosus: an evolving understanding.

Frontiers in immunology·2026
Same author

Comparison of BAFF and type I IFN activity in blood and placenta in SLE and healthy pregnancies.

Lupus science & medicine·2026
Same author

Single-cell RNA-seq reveals a persistent interferon signature in immune cells from systemic lupus erythematosus patients with high versus low polygenic risk scores despite antimalarial treatment.

Journal of autoimmunity·2026
Same author

Co-Designing Local Collaboration Between Social Services, Primary Healthcare, and the Third Sector-A Realist Process Evaluation.

Health expectations : an international journal of public participation in health care and health policy·2026
Same author

A systematic review and meta-analysis evaluating the effect of exercise on the development of cancer-related lymphedema.

JNCI cancer spectrum·2026

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Type 1 interferons (IFNs) are crucial for immune regulation.
  • Identifying genetic variations in type 1 IFN pathways is important for understanding immune-related diseases.
  • Previous methods for single nucleotide polymorphism (SNP) validation were inefficient.

Purpose of the Study:

  • To develop a more effective method for validating candidate SNPs.
  • To establish a high-throughput genotyping assay for type 1 IFN-related genes.
  • To enable quantitative allele frequency determination in pooled DNA samples.

Main Methods:

  • Selection of 125 candidate SNPs in type 1 IFN pathway genes.
  • Development of a four-colour microarray-based mini-sequencing assay.

Related Experiment Videos

  • Utilisation of cyclic mini-sequencing with tag-labelled primers and microarray hybridization for multiplex genotyping.

    • Main Results:

    • Only 20% of candidate SNPs were polymorphic in Finnish and Swedish populations.
    • The microarray assay demonstrated quantitative analysis capabilities.
    • The limit of detection for minority alleles was below 5% for approximately half of the tested SNPs.

    Conclusions:

    • The developed microarray-based genotyping system is universally applicable for SNP analysis.
    • This validated system facilitates genetic studies of the type 1 IFN pathway.
    • The assay enables efficient and quantitative allele frequency determination in pooled DNA.