Jove
Visualize
Contact Us

Related Experiment Videos

A possible mutation of a fluorescence polymorphism

J A Robinson, K E Buckton, H J Evans

    Annals of Human Genetics
    |January 1, 1978
    PubMed
    Summary

    This study tracked Q-band polymorphisms in 32 families, observing 208 offspring. A mutation was identified in one offspring, showing a loss of fluorescence intensity on chromosome 21 satellite DNA.

    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

    Medical management of severe obstructive sleep apnoea in two cases during the coronavirus disease 2019 pandemic.

    The Journal of laryngology and otology·2022
    Same author

    Microanalysis of fractions of a cubic millimeter of gas.

    The Journal of biological chemistry·2010
    Same author

    A low pH form of thiamine pyrophosphatase from bovine brain.

    Neuroscience letters·2009
    Same author

    Early postoperative endoscopic sphincterotomy for retained common duct stones.

    Annals of the Royal College of Surgeons of England·2009
    Same author

    Effects of artificial gravity during bed rest on bone metabolism in humans.

    Journal of applied physiology (Bethesda, Md. : 1985)·2008
    Same author

    Recovery of spaceflight-induced bone loss: bone mineral density after long-duration missions as fitted with an exponential function.

    Bone·2007
    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

    Area of Science:

    • Human Genetics
    • Molecular Biology
    • Cytogenetics

    Background:

    • Q-band polymorphisms are variations in chromosome banding patterns.
    • Understanding genetic variation and mutation is crucial in human genetics.
    • Previous studies have analyzed polymorphism segregation in family studies.

    Purpose of the Study:

    • To investigate the segregation patterns of Q-band polymorphisms within families.
    • To identify and characterize any observed genetic variations or mutations.
    • To discuss the implications of observed mutations and estimate mutation rates.

    Main Methods:

    • Family-based study design involving 32 families.
    • Analysis of 90 matings and 208 offspring.
    • Cytogenetic analysis to detect changes in Q-band polymorphisms, specifically fluorescence intensity.

    Main Results:

    • Segregation of Q-band polymorphisms was analyzed across three generations.
    • A spontaneous mutation was detected in one offspring.
    • The mutation involved a loss of fluorescent intensity in the satellite region of chromosome 21.

    Conclusions:

    • Observed changes in Q-band fluorescence indicate a mutation event.
    • The study provides data for discussing the origin of such mutations.
    • Further research is needed to accurately determine mutation rates for these polymorphisms.

    Related Experiment Videos