identification of a mutation associated with fatal foal immunodeficiency syndrome in the fell and dales pony突变的识别与致命的马驹在下降,山谷小马免疫缺陷综合症.pdfVIP

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identification of a mutation associated with fatal foal immunodeficiency syndrome in the fell and dales pony突变的识别与致命的马驹在下降,山谷小马免疫缺陷综合症.pdf

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identification of a mutation associated with fatal foal immunodeficiency syndrome in the fell and dales pony突变的识别与致命的马驹在下降,山谷小马免疫缺陷综合症

Identification of a Mutation Associated with Fatal Foal Immunodeficiency Syndrome in the Fell and Dales Pony 1 2 3 3 4 Laura Y. Fox-Clipsham , Stuart D. Carter , Ian Goodhead , Neil Hall , Derek C. Knottenbelt , Paul D. F. 5 6 1 May , William E. Ollier , June E. Swinburne * 1 Animal Health Trust, Newmarket, Suffolk, United Kingdom, 2 Department of Infection Biology, School of Veterinary Science, University of Liverpool, Liverpool, United Kingdom, 3 Centre for Genomic Research, Institute of Integrative Biology, University of Liverpool, Liverpool, United Kingdom, 4 Department of Veterinary Clinical Science, Equine Hospital, University of Liverpool, Liverpool, United Kingdom, 5 Townhead Veterinary Centre, Townhead Farm, Penrith, United Kingdom, 6 Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, United Kingdom 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 unknown carrier status to a ,1 Mb region (29.8 –