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 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 longitudinal, multi-omic atlas reveals the emergence of a spatially organized immunosuppressive ecosystem in resistant melanoma.

Cell reports. Medicine·2026
Same author

STING-induced blood-brain barrier opening combined with radiotherapy potentiates antitumor response in a high-grade glioma model.

The Journal of clinical investigation·2026
Same author

STING activation induces cytotoxic and immune responses in meningiomas via inflammatory cell death pathways.

Nature communications·2026
Same author

SMARCAL1 is a targetable synthetic lethal therapeutic vulnerability in ATRX-deficient gliomas that use alternative lengthening of telomeres.

Neuro-oncology·2026
Same author

Lymphotropic Virotherapy Induces DC and High Endothelial Venule Inflammation, Promoting the Antitumor Efficacy of Intratumor Virus Administration.

Cancer immunology research·2025
Same author

Clinical trial of feasibility for mindfulness intervention for patients with newly diagnosed high grade glioma.

Journal of neuro-oncology·2025

Related Experiment Video

Updated: Jun 17, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

Rapid detection of SMARCB1 sequence variation using high resolution melting.

Vinod Dagar1, Chung-Wo Chow, David M Ashley

  • 1Children's Cancer Centre, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia. vinod.dagar@mcri.edu.au

BMC Cancer
|December 17, 2009
PubMed
Summary

High-resolution melting (HRM) analysis offers a rapid, sensitive, and cost-effective method for screening SMARCB1 gene mutations in rhabdoid tumors. This approach aids in assessing cancer recurrence and transmission risks.

More Related Videos

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
08:46

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

Related Experiment Videos

Last Updated: Jun 17, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
08:46

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Rhabdoid tumors are aggressive pediatric cancers linked to SMARCB1 gene mutations.
  • Germline SMARCB1 inactivation is associated with rhabdoid tumors, epithelioid sarcoma, and familial schwannomatosis.
  • Accurate mutation screening is crucial for risk assessment in affected families.

Purpose of the Study:

  • To develop and validate a rapid, sensitive diagnostic screening method for SMARCB1 sequence variations.
  • To evaluate the utility of high-resolution melting (HRM) analysis for mutation detection in SMARCB1.

Main Methods:

  • Screening of SMARCB1 coding exons, splice sites, and UTRs using HRM and direct DNA sequencing.
  • Optimization of HRM reaction conditions with commercial reagents.
  • Confirmation of mutations using digital HRM and re-sequencing for complex cases.

Main Results:

  • HRM demonstrated zero false negatives in the tested sample series.
  • Nine distinct pathogenic SMARCB1 mutations were identified in 19 rhabdoid tumors.
  • Detection sensitivity varied based on sequence context and nucleotide change.

Conclusions:

  • HRM is a reliable and efficient tool for SMARCB1 mutation screening.
  • This method is suitable for widespread adoption in diagnostic laboratories.
  • HRM facilitates comprehensive gene mutation screening for rhabdoid tumors.