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

Oligonucleotide microarray based detection of repetitive sequence changes.

J G Hacia1, K Edgemon, N Fang

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Human Mutation
|October 3, 2000
PubMed
Summary

Oligonucleotide microarrays accurately detect most BRCA1 mutations, but struggle with short repetitive sequences. Increased or decreased probe hybridization signals can indicate these challenging repetitive sequence changes.

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

[Myoepithelial tumor of soft tissue with EWSR1::KLF17 fusion: report of a case].

Zhonghua bing li xue za zhi = Chinese journal of pathology·2026
Same author

COLOFIT: Development and Internal-External Validation of Models Using Age, Sex, Faecal Immunochemical and Blood Tests to Optimise Diagnosis of Colorectal Cancer in Symptomatic Patients.

Alimentary pharmacology & therapeutics·2025
Same author

Genome Wide Conditional Mouse Knockout Resources.

Drug discovery today. Disease models·2024
Same author

[Research progress of Mendelian randomization analysis in obstructive sleep apnea].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery·2024
Same author

Room-temperature quantum emission from interface excitons in mixed-dimensional heterostructures.

Nature communications·2024
Same author

Resonant exciton transfer in mixed-dimensional heterostructures for overcoming dimensional restrictions in optical processes.

Nature communications·2023

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Oligonucleotide microarrays offer high sensitivity and specificity for mutational analysis.
  • Frameshift mutations within short repetitive sequences present a challenge for current microarray-based detection methods.

Purpose of the Study:

  • To evaluate the effectiveness of oligonucleotide microarrays in detecting heterozygous mutations within repetitive BRCA1 sequence tracts.
  • To identify specific types of repetitive mutations that are difficult to detect using standard microarray hybridization.

Main Methods:

  • Preparation of nucleic acid samples with various heterozygous mutations in repetitive BRCA1 sequences (e.g., insertions, deletions, duplications).
  • Two-color comparative hybridization experiments using microarrays covering the entire BRCA1 coding sequence.

Related Experiment Videos

  • Analysis of hybridization signal intensity to perfect match oligonucleotide probes for mutation detection.

    • Main Results:

    • Heterozygous mutations were detected in 9 out of 19 simulated samples.
    • Alterations in poly dA/dT tracts, small triplet repeat expansions, and a 10 bp direct repeat were not detectable.
    • Unexpectedly, (GAT)3 triplet repeat expansions showed increased probe affinity.

    Conclusions:

    • Oligonucleotide microarrays are not consistently effective for detecting all types of heterozygous mutations in repetitive sequences.
    • Both increased and decreased hybridization signals to perfect match probes should be considered as indicators of repetitive sequence alterations.