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Thread: VERY exciting news: MVD included in SM genome scan!!

  1. #1
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    Default VERY exciting news: MVD included in SM genome scan!!

    This is very exciting news and offers a real glimps of hope for fighting these two terrible scourges of the CKCS breed.

    MVD is now officially part of the international CKCS genome scan
    project.

    Gaining a better understanding of the genetic component of mitral
    valve disease, and hopefully, the identification of the responsible
    genes and creation of a genetic test, is now to be included in the
    existing CKCS genome project underway in Canada. This is a very
    significant new element of the research and comes after the initial
    phase of the scan and analysis of genetic samples has indicated this
    should be possible to do. This looks to be very exciting work,
    providing a better understanding of both conditions and we all hope,
    a way forward to tackle these conditions in the breed.

    More information here, in the new newsletter from Dr Clare Rusbridge,
    released today. I've posted it as a webpage:

    http://sm.cavaliertalk.com/smnews2006.htm

    From the molecular geneticist who has worked on the DNA samples:

    The first step which is genetic mapping is currently underway. Due to the complex inbreeding in the CKCS, a preliminary genetic analysis
    was necessary to evaluate the informativeness of the genetic markers
    and hence the feasibility of a whole genome scan in such breed.
    Consequently, 10 dogs were selected for genotyping with 122 markers
    distributed among the 38 autosomes and X chromosome. The markers were found to be sufficiently polymorphic and informative. Next, 200 dogs were selected for a whole genome scan, primarily for Chiari
    malformation. However with additional phenotypic information on
    mitral valve disease, it is possible to use the same data to map the
    gene(s) defective in this disease. The whole genome scan was
    conducted at the Mammalian genotyping Center at the Marshfield Clinic in Wisconsin, USA. The genotyping data will now be analyzed using both linkage-based and association studies. In the latter, we will be taking advantage of the founder effect demonstrated for both these disorders in the CKCS breed.

    This strategy involves: 1) genetic mapping of the underlying gene(s),
    2) identification of these defective gene(s) using the positional
    candidate gene approach and characterization of the mutation(s) and
    3) initial functional characterization of the protein(s) encoded by
    the gene(s). This will help better understand the underlying
    pathogenic mechanisms for better diagnosis, prognosis and clinical
    management of these devastating conditions. These studies will also
    help unravel some of the complexity involved in this malformation in
    humans and in the embryonic development of the affected structures."
    Karlin
    Cavaliers: Jaspar Leo Lily Tansy Libby (foster) Mindy (foster)
    In memory: Lucy
    Cavalier SM Infosite:www.smcavaliers.com

  2. #2
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    This is wonderful!!!
    Dogs are not our whole life, but they make our lives whole.
    --Roger Caras

  3. #3
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    This is HUGE!!

    This is so encouraging, how exciting!
    Jen, Abbey (Tri Cavalier) & Gus (White Min. Schnauzer)

  4. #4
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    GREAT news!!!!

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