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

Methods in clinical molecular genetics.

R G Cotton1

  • 1Mutation Research Centre, Fitzroy Victoria, Australia. cotton@ariel.ucs.unimelb.edu.au

European Journal of Pediatrics
|February 24, 2001
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

Chemical cleavage of heteroduplex DNA to identify mutations.

Current protocols in human genetics·2008
Same author

Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, Slovenia.

Human mutation·2001
Same author

10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, Scotland.

Human mutation·2001
Same author

Go!Poly: A gene-oriented polymorphism database.

Human mutation·2001
Same author

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Kidney international·2001
Same author

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Archives of biochemistry and biophysics·2001
Same journal

Ultrasound-guided midline catheters in the neonatal intensive care unit: a single-center pilot study.

European journal of pediatrics·2026
Same journal

Gastrointestinal pathogens in paediatric patients with diarrhoea during the COVID-19 pandemic in Spain: a multicentre molecular-based prospective study.

European journal of pediatrics·2026
Same journal

Low serum immunoglobulin levels in pediatric atopic dermatitis: association with disease severity and exploratory scores.

European journal of pediatrics·2026
Same journal

Safely developing respiratory care during emergency neonatal transport through systematic collection and analysis of detailed ventilator data.

European journal of pediatrics·2026
Same journal

Validity and reliability of the Turkish version of the Physical Activity Parenting Questionnaire for Children.

European journal of pediatrics·2026
Same journal

Correction to: A novel oxygenation distension index (ODI): a driving pressure-based metric compared with the oxygenation index in pediatric PARDS.

European journal of pediatrics·2026
See all related articles

Discovering gene mutations is crucial for medical research and cancer diagnostics. Current mutation detection methods are inconvenient and costly, prompting a review of existing technologies and their limitations.

Area of Science:

  • Genetics and Genomics
  • Medical Diagnostics
  • Bioinformatics

Background:

  • Mutation detection is essential in biology, particularly for gene discovery and cancer diagnostics.
  • Existing mutation detection methods face challenges related to cost and convenience.
  • High-profile chip technologies, while impactful in expression studies, present difficulties for mutation detection, especially for unknown mutations.

Purpose of the Study:

  • To review current mutation detection methods and discuss their advantages and disadvantages.
  • To assess the limitations of chip technology in mutation detection.
  • To highlight the importance of accurate mutation documentation and the role of initiatives like the Human Genome Organisation mutation database.

Main Methods:

  • Review of existing literature on mutation detection techniques.

Related Experiment Videos

  • Critical analysis of the strengths and weaknesses of current methods.
  • Discussion of the applicability and challenges of emerging technologies, including chip-based approaches.
  • Examination of mutation documentation strategies and database initiatives.

    • Main Results:

    • Current mutation detection methods are suboptimal, primarily due to cost and convenience issues.
    • Chip technologies, despite their success in other areas, are problematic for comprehensive mutation detection, particularly for novel mutations.
    • Accurate documentation of discovered mutations is critical for advancing genetic research and diagnostics.

    Conclusions:

    • Existing mutation analysis techniques require improvement to overcome limitations in cost and convenience.
    • New technologies need further development to effectively address the challenges in mutation detection.
    • Standardized mutation documentation and database efforts are vital for the progress of genetic medicine.