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Myotonic dystrophy: developments in molecular genetics.

D J Shaw, P S Harper

    British Medical Bulletin
    |July 1, 1989
    PubMed
    Summary
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    Myotonic dystrophy, a common adult muscular dystrophy, is inherited dominantly and linked to chromosome 19. Researchers are using DNA markers and genetic mapping to pinpoint the specific gene responsible for this variable condition.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Neurology

    Background:

    • Myotonic dystrophy is the most common adult muscular dystrophy, characterized by variable symptoms and autosomal dominant inheritance.
    • The genetic basis of myotonic dystrophy has been localized to chromosome 19.

    Purpose of the Study:

    • To detail the genetic localization of myotonic dystrophy on chromosome 19.
    • To identify the specific gene responsible for myotonic dystrophy.
    • To improve genetic prediction and prenatal diagnosis for myotonic dystrophy.

    Main Methods:

    • Development of DNA probes and closely linked markers for chromosome 19.
    • Construction of somatic cell hybrid lines for genetic mapping.
    • Detailed localization studies on the long arm of chromosome 19 (19q).

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  • Application of pulsed field gel electrophoresis and other molecular techniques.

    • Main Results:

    • Established closely linked markers for myotonic dystrophy on chromosome 19.
    • Achieved detailed localization of the myotonic dystrophy locus on chromosome 19q.
    • Developed accurate genetic prediction tests, including prenatal diagnosis.

    Conclusions:

    • Genetic markers and mapping have significantly advanced the understanding and diagnosis of myotonic dystrophy.
    • Ongoing molecular analysis aims to identify the causative gene for myotonic dystrophy.
    • Accurate genetic prediction and prenatal diagnosis are currently available.