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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

    Oct 11, 2008
    Likes Received:
    It has been announced on Clare Rusbridge's (neurologist studying SM) website

    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

    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
    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

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