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

The eye and the chromosome.

M B Mets, I H Maumenee

    Survey of Ophthalmology
    |July 1, 1983
    PubMed
    Summary

    Genetic mapping of human diseases has rapidly advanced, with over 338 assignments to chromosome loci. This review details gene mapping methodologies and highlights autosomal and X-chromosome disease trait linkages, particularly for eye conditions.

    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

    A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

    Ophthalmic genetics·2006
    Same author

    Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

    Ophthalmic genetics·2002
    Same author

    The ateliotic macula: a newly recognized developmental anomaly.

    Transactions of the American Ophthalmological Society·2002
    Same author

    Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2001
    Same author

    Eye manifestations of intrauterine infections.

    Ophthalmology clinics of North America·2001
    Same author

    Spontaneous resolution of cytomegalovirus retinitis in an infant with congenital cytomegalovirus infection.

    Retina (Philadelphia, Pa.)·2001

    Area of Science:

    • Human Genetics
    • Medical Genomics
    • Ophthalmology

    Background:

    • The historical progression of human disease gene mapping, from early X-chromosome linkage in 1937 to autosomal assignments in 1963.
    • The exponential growth in genetic mapping, reaching over 338 loci assignments in recent years.

    Purpose of the Study:

    • To review the fundamental mechanisms of genetic mutation.
    • To explain the methodologies employed in human gene assignment.
    • To catalog autosomal and X-chromosome linked eye diseases.

    Main Methods:

    • Review of established genetic linkage analysis techniques.
    • Explanation of gene mapping strategies for disease trait localization.
    • Compilation of data on confirmed autosomal and X-chromosome disease assignments.

    Main Results:

    • Presentation of all confirmed autosomal disease trait assignments.
    • Discussion of diseases with regional assignments on the X-chromosome.
    • Tabulated list of remaining X-linked eye diseases.

    Conclusions:

    • The significant progress in human gene mapping, especially concerning ocular genetic disorders.
    • The importance of understanding mutation mechanisms and mapping methodologies for genetic disease research.
    • The utility of this review in consolidating information on mapped eye diseases.

    Related Experiment Videos