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

Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.

Kiran K Mantripragada1, Patrick G Buckley, Caroline Jarbo

  • 1Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 75185, Uppsala, Sweden.

Journal of Molecular Medicine (Berlin, Germany)
|June 28, 2003
PubMed
Summary
This summary is machine-generated.

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

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants.

BMC cancer·2026
Same author

The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa.

PloS one·2026
Same author

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.

Life science alliance·2025
Same author

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Frontiers in medicine·2025
Same author

A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification.

PloS one·2025
Same author

Impact of genetic variants linked to liver fat and liver volume on MRI-mapped body composition.

JHEP reports : innovation in hepatology·2025

This study introduces a novel high-resolution microarray for detecting deletions in the Neurofibromatosis type 2 (NF2) gene, improving diagnosis for NF2 patients. The new method offers enhanced accuracy for identifying gene copy number aberrations.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome.
  • It results from biallelic inactivation of the neurofibromin 2 tumor suppressor gene (NF2).
  • Current diagnostic methods for NF2 deletions are underdeveloped for high-resolution, high-throughput analysis.

Purpose of the Study:

  • To develop an improved diagnostic tool for detecting disease-causing deletions in the NF2 gene.
  • To enhance the resolution of gene copy number analysis for NF2.
  • To create the first high-resolution microarray for NF2 gene aberrations.

Main Methods:

  • A PCR-based, sequence-defined, repeat-free approach was used.
  • Bioinformatics was employed to preselect target DNA and exclude redundant sequences within the NF2 locus.

Related Experiment Videos

  • A diagnostic microarray for NF2 deletion detection was prepared.

    • Main Results:

    • The developed methodology significantly increased the resolution of deletion detection.
    • The average resolution across the NF2 locus achieved was 23 kb.
    • This represents the first high-resolution tool for detecting significant NF2 gene copy number aberrations.

    Conclusions:

    • The NF2 gene-specific microarray is a novel, high-resolution diagnostic tool.
    • This tool addresses the need for improved detection of deletions in NF2 patients.
    • Further application in extensive patient sample analysis is recommended.