Murgiano L, Drögemüller C, Sbarra F, Bolcato M, Gentile A
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstr. 109a, 3001 Bern, Switzerland.
National Association of Italian Beef-Cattle Breeders, Via Visciolosa, 06132 S. Martino in Colle, Italy.
Vet J. 2014 Jun;200(3):459-61. doi: 10.1016/j.tvjl.2014.03.020. Epub 2014 Mar 26.
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%.
“腹犊综合征”一词涵盖了罗曼诺拉牛品种中报道的多器官致死性发育异常，其特征为面部畸形、腹部肿大且有波动感，伴有大量腹腔积液以及肝纤维化。腹犊综合征由KDM2B基因中的一个错义突变（c.2503G>A）引起，该突变被认为会导致氨基酸交换（p.D835N）。在本研究中，对罗曼诺拉牛的选定亚群中突变KDM2B等位基因携带者的患病率（即该等位基因的频率）进行了评估。在2007年至2012年排名靠前的罗曼诺拉种公牛中，携带者的患病率为29.3%（等位基因频率为14.6%）。在年轻公牛犊中，30.9%为携带者，等位基因频率为15.4%。
