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Novel Locus for Syringomyelia in Cavaliers has been identified.

Discussion in 'Dog Health and Nutrition' started by comfortcreature, May 31, 2010.


  1. comfortcreature

    comfortcreature PetForums VIP

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    It has been announced on Clare Rusbridge's (neurologist studying SM) website
    that:

    1. there has been identification of a locus for syringomyelia (SM) associated
    with chiari-like malformation in the Cavalier.

    2. there has been identification of a haplotype that infers protection against
    SM.

    Looking about 2/3rds down the page, you can see a table showing five haplotypes.

    1.TCGAACTTGG - 58.1% of Cavaliers in the study have.
    2.GTAGGACCAT - 27.2% of Cavaliers in the study have.
    3.TTAGGCTTGG - 6.0% of Cavaliers in the study have.
    4.GTAGGACCGT - 2.3% of the Cavaliers in the study have. (This is the protective
    one)
    5.GTAGGATTGG - 1.8% of Cavaliers in the study have.

    Notice that the fourth haplotype (the protective one) looks to be a single mutation away from the second, which might have been, then, unintentionally selected for . . . . I'm thnking of possibly a 'Base-Pair Substitution Mutation' as described at the following link:

    Chapter 2 - Canine Genetics Diversity Articles

    I find the 2.3% figure worrying as well. I'd love to know what others think of the implications of this news.

    This is a link to the announcement.

    http://www.veterinary-neurologist.co.uk/syringomyelia/docs/sm research update may 2010.pdf

    CC
     
    #1 comfortcreature, May 31, 2010
    Last edited: May 31, 2010
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