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

Evolutionary dynamics of the FMR1 locus

A Morris1, N E Morton, A Collins

  • 1Human Genetics Centre, Princess Anne Hospital, University of Southampton.

Annals of Human Genetics
|July 1, 1995
PubMed
Summary

Rare haplotypes are linked to the fragile X mutation. Population models predict a slow increase and subsequent decrease in fragile X premutations and full mutations due to reduced genetic variability.

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

Klinefelter syndrome in a Holstein-Friesian bull: a case report.

Irish veterinary journal·2026
Same author

Design and evaluation of a custom circulating tumour DNA assay to detect endometrial cancer recurrence.

NPJ precision oncology·2026
Same author

Placement, management and complications associated with peripheral intravenous catheter use in UK small animal practice.

The Journal of small animal practice·2024
Same author

Correction to: Primary care usage at the end of life: a retrospective cohort study of cancer patients using linked primary and hospital care data.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2024
Same author

Management of isolated anomalous systemic arterial supply to normal lung (ISSNL) during pregnancy.

QJM : monthly journal of the Association of Physicians·2024
Same author

Primary care usage at the end of life: a retrospective cohort study of cancer patients using linked primary and hospital care data.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2024

Area of Science:

  • Genetics
  • Population Genetics
  • Molecular Biology

Background:

  • The fragile X mutation is associated with specific rare haplotypes at flanking markers.
  • Founder haplotypes can be identified, but numerous rare alleles contribute to full mutations.

Purpose of the Study:

  • To investigate the association between rare haplotypes and fragile X mutation characteristics.
  • To model the population dynamics of fragile X premutations and full mutations.

Main Methods:

  • Analysis of rare haplotypes and their association with fragile X allele size and frequency.
  • Construction of a transition matrix to predict population-level allele frequency changes over generations.

Main Results:

  • Rare flanking marker haplotypes correlate with increased fragile X allele size and mutation frequency.

Related Experiment Videos

  • Population modeling suggests a transient increase in premutations and full mutations, followed by depletion, in populations with reduced variability.

    • Conclusions:

    • The study provides insights into the population genetics of fragile X mutations.
    • Model predictions offer an alternative to hypotheses of continuously increasing mutation frequency.
    • Further data are needed to definitively conclude on the evolutionary dynamics of fragile X alleles.