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

How often are polymorphic restriction sites due to a single mutation?

R R Hudson1

  • 1National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709.

Theoretical Population Biology
|August 1, 1989
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

Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants.

American journal of human genetics·2005
Same author

Type I error and the power of the s-test: old lessons from a new, analytically justified statistical test for phylogenies.

Systematic biology·2002
Same author

Two-locus sampling distributions and their application.

Genetics·2002
Same author

Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels.

American journal of human genetics·2001
Same author

Coalescent simulations and statistical tests of neutrality.

Molecular biology and evolution·2001
Same author

LIAN 3.0: detecting linkage disequilibrium in multilocus data. Linkage Analysis.

Bioinformatics (Oxford, England)·2000
Same journal

The joint spectrum over trees under the Kingman coalescent with varying population.

Theoretical population biology·2026
Same journal

Statistical test to compare the linkage model and the admixture model based on central limit results.

Theoretical population biology·2026
Same journal

Threshold dynamics in age-structured distributions with expanding support: A unified mathematical framework.

Theoretical population biology·2026
Same journal

Mechanistic-statistical model for the expansion of ash dieback.

Theoretical population biology·2026
Same journal

Dynamics of an intraguild predation system with optimal foraging and harvesting.

Theoretical population biology·2026
Same journal

Impact of co-occurrent assortative mating and vertical cultural transmission on measures of genetic associations.

Theoretical population biology·2026
See all related articles

Multiple mutations can occur at polymorphic restriction sites, especially in larger samples. This study provides an approximation for this probability and evaluates estimators for population genetics parameters.

Area of Science:

  • Population Genetics
  • Molecular Evolution
  • Bioinformatics

Background:

  • Understanding mutation patterns at restriction sites is crucial for population genetics studies.
  • Polymorphic sites can arise from single or multiple mutations from the most recent common ancestor.
  • The Wright-Fisher model under neutrality is a standard framework for population genetic analysis.

Purpose of the Study:

  • To derive an approximate expression for the probability of multiple mutations at polymorphic restriction sites.
  • To assess the accuracy of this approximation using Monte Carlo simulations.
  • To evaluate the performance of estimators for the population mutation parameter (4Nu).

Main Methods:

  • Derivation of an approximate mathematical expression for multiple mutations at polymorphic restriction sites.

Related Experiment Videos

  • Utilizing the selectively neutral Wright-Fisher model at equilibrium.
  • Employing Monte Carlo simulations to test approximation accuracy and estimator bias/error.

    • Main Results:

    • The derived approximation for multiple mutations at polymorphic restriction sites is found to be accurate.
    • Simulations indicate that 5-10% of polymorphic restriction sites may harbor multiple mutations in human and Drosophila populations (sample sizes 50-100, six-cutter enzymes).
    • Two out of four estimators for 4Nu exhibit approximately 20% bias in simulated natural population settings.

    Conclusions:

    • The study provides a reliable method to estimate the occurrence of multiple mutations at polymorphic restriction sites.
    • Findings highlight the potential for multiple mutations to be a significant factor in genetic variation analyses.
    • Certain estimators for the population mutation rate (4Nu) show considerable bias, necessitating careful interpretation in population studies.