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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

You might also read

Related Articles

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

Sort by
Same author

Negative effects of chemical mutagenesis on the adaptive behavior of vesicular stomatitis virus.

Journal of virology·1997
Same author

Clinical importance of unilaterally enlarging lymph nodes on otherwise normal mammograms.

Radiology·1997
Same author

Angiogenesis and osteogenesis in an orthopedically expanded suture.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics·1997
Same author

Posttransplantation lymphoproliferative disorders in bone marrow transplant recipients are aggressive diseases with a high incidence of adverse histologic and immunobiologic features.

American journal of clinical pathology·1997
Same author

Erythromycin treatment for gastrointestinal dysmotility in preterm infants.

Journal of paediatrics and child health·1997
Same author

A simple and rapid method for isolation of high quality genomic DNA from fruit trees and conifers using PVP.

Nucleic acids research·1997

Related Experiment Video

Updated: Jun 4, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Cleavase® fragment length polymorphism analysis for genotyping and mutation detection.

L Heisler1, C H Lee

  • 1Orton Scientific Consulting, Madison, WI.

Methods in Molecular Medicine
|March 4, 2011
PubMed
Summary

DNA sequencing is costly for identifying genetic mutations. New mutation scanning methods offer a faster, more cost-effective alternative for DNA diagnostics and genetic variant identification.

More Related Videos

DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat (VNTR) - Fragment Length Analysis (FLA)
09:39

DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat (VNTR) - Fragment Length Analysis (FLA)

Published on: July 15, 2011

Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis
06:30

Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis

Published on: February 5, 2014

Related Experiment Videos

Last Updated: Jun 4, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat (VNTR) - Fragment Length Analysis (FLA)
09:39

DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat (VNTR) - Fragment Length Analysis (FLA)

Published on: July 15, 2011

Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis
06:30

Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis

Published on: February 5, 2014

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • DNA sequencing is the definitive method for identifying genetic mutations but is often cost-prohibitive for clinical diagnostics.
  • Existing mutation scanning methods provide limited information, often only a 'yes' or 'no' answer regarding differences from a reference sequence.

Purpose of the Study:

  • To address the limitations of current mutation scanning techniques.
  • To develop methods capable of unambiguously identifying unique nucleic acid variants, especially those with multiple sequence changes.

Main Methods:

  • Review and analysis of existing mutation scanning technologies.
  • Exploration of novel approaches for mutation detection and variant identification.

Main Results:

  • Current mutation scanning methods are often unsuitable for PCR-based genotyping due to their inability to identify unique variants.
  • A need exists for advanced methods that can accurately characterize genetic variations beyond simple presence or absence.

Conclusions:

  • Advanced mutation scanning techniques are crucial for cost-effective and precise DNA diagnostics.
  • Improved methods are required to overcome the limitations of current technologies in identifying complex genetic alterations and for PCR-based genotyping applications.