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Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle.

Veterinary Journal (London, England : 1997)

Mutation, Missense, Prevalence, congenital, enzymology, Cattle Diseases, epidemiology, genetics, Gene Frequency, Heterozygote, Italy, Jumonji Domain-Containing Histone Demethylases, metabolism, Male, Animals, Cattle

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      The term 'paunch calf syndrome' encompasses the multi-organic lethal developmental dysplasia reported in the Romagnola breed of cattle and is characterised by facial deformities, an enlarged and floating abdomen containing considerable abdominal effusion, and hepatic fibrosis. Paunch calf syndrome is caused by a missense mutation in the KDM2B gene (c.2503G>A) that is thought to lead to an amino acid exchange (p.D835N). In this study, the prevalence of carriers of the mutant KDM2B allele (and thus the frequency of the allele) was assessed in selected subpopulations of Romagnola cattle. The prevalence of carriers within top-ranked Romagnola sires over the years 2007-2012 was 29.3% (allele frequency 14.6%). In young bull calves, 30.9% were carriers with an allele frequency of 15.4%. Copyright © 2014 Elsevier Ltd. All rights reserved.

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