Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.

ABSTRACT: The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS), which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (∼10%) of the Fell ponies born each year dies from FIS, compromising the long-term survival of this breed. Moreover, the likely spread of FIS into other breeds is of major concern. Indeed, FIS was identified in the Dales pony, a related breed, during the course of this work. Using a stepwise approach comprising linkage and homozygosity mapping followed by haplotype analysis, we mapped the mutation using 14 FIS-affected, 17 obligate carriers, and 10 adults of unkno

SUBMITTER: Fox-Clipsham LY 

PROVIDER: S-EPMC3131283 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature