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

Detecting single-base mutations

J Prosser1

  • 1Medical Research Council Human Genetics Unit, Edinburgh, UK.

Trends in Biotechnology
|June 1, 1993
PubMed
Summary
This summary is machine-generated.

Detecting single-base changes is crucial in human genetics for linking gene mutations to diseases and for clinical diagnosis. This article reviews techniques for screening and diagnosing genetic mutations, aiding in method selection.

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

Identifying the Most Clinically Effective Exercise Prescription for Improving Maximum Walking Distance in People with Intermittent Claudication: A Systematic Review with Network and Component Network Meta-analysis.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2026
Same author

Infant botulism due to C. butyricum type E toxin: a novel environmental association with pet terrapins.

Epidemiology and infection·2014
Same author

Mobility and survival of Salmonella Typhimurium and human adenovirus from spiked sewage sludge applied to soil columns.

Journal of applied microbiology·2009
Same author

Genetic and metabolic predictors of chemosensitivity in oligodendroglial neoplasms.

British journal of cancer·2006
Same author

Downscatter correction and choice of collimator in 123I imaging.

Physics in medicine and biology·2006
Same author

The Functional Pain Scale: reliability, validity, and responsiveness in an elderly population.

Journal of the American Medical Directors Association·2003
Same journal

Bacterial spores as a modular platform for the production of amyloids for materials.

Trends in biotechnology·2026
Same journal

The oriGen case and Mexico's regulatory blind spots in genomic biobanking.

Trends in biotechnology·2026
Same journal

A caspase-3-activated protein expression system for apoptosis visualization and apoptosis-pyroptosis conversion to boost antitumor activity.

Trends in biotechnology·2026
Same journal

Over 4 months of ethylene production using solid-state photosynthetic cell factories.

Trends in biotechnology·2026
Same journal

Closing the nitrogen loop in groundwater with biohybrid technologies.

Trends in biotechnology·2026
Same journal

Engineering environmental bacteria for whole-cell PET hydrolysis and assimilation.

Trends in biotechnology·2026
See all related articles

Area of Science:

  • Molecular Genetics
  • Human Genetics
  • Genetic Diagnostics

Background:

  • Detecting single-base changes is fundamental in molecular genetics.
  • Linking gene mutations to disease phenotypes is a key focus in human genetics.
  • Clinical diagnosis of specific mutations is in high demand.

Purpose of the Study:

  • To describe techniques for screening unknown mutations.
  • To present methods for diagnosing previously identified mutations.
  • To provide guidelines for selecting appropriate mutation detection techniques.

Main Methods:

  • Explanation of underlying methods for mutation detection.
  • Comparison of different techniques for screening and diagnosis.
  • Guidelines for choosing between various mutation detection strategies.

Related Experiment Videos

Main Results:

  • Overview of techniques for identifying single-base changes.
  • Discussion of methods applicable to both unknown and known mutations.
  • Framework for selecting the most suitable technique based on specific needs.

Conclusions:

  • Effective detection of single-base changes is vital for genetic research and clinical practice.
  • A range of techniques are available for mutation screening and diagnosis.
  • Informed selection of techniques enhances the accuracy and efficiency of genetic analysis.