Torricelli Martina, Sebastiani Carla, Fratto Anna, Ciullo Marcella, Sbarra Fiorella, Biagetti Massimo
Istituto Zooprofilattico Sperimentale dell'Umbria e delle Marche "Togo Rosati", Via G. Salvemini 1, Perugia, 06121, Italy.
Associazione Nazionale Allevatori Bovini Italiani da Carne (ANABIC), Strada del Vio Viscioloso, 21, Perugia, 06132, Italy.
Vet Res Commun. 2025 Jun 4;49(4):213. doi: 10.1007/s11259-025-10780-2.
A certain number of inherited diseases and traits in cattle have been characterized at the molecular level, identifying the causative gene variant in the DNA locus. Also the three main native Italian beef cattle breeds located in the Apennine Mountains (Chianina, Marchigiana and Romagnola) are interested by this discovery. Genetic selection in Italian beef cattle is implemented by the National Association of Italian Beef Cattle Breeders, with the aim of improving meat production, growth ability and muscle development. Contextually, bovines, particularly those with pedigree registered in the genealogical book, have to be constantly monitored for the main congenital and hereditary disorders, among them "Paunch Calf syndrome" and "Congenital Ichthyosis". Paunch Calf Syndrome (PCS) is associated with a missense variant in the KDM2B gene on chromosome 17, while Congenital Ichthyosis (CI) is caused by an insertion of a cytosine in FA2H gene causing a frame-shift on chromosome 18. The aim of this work was to present an update of the prevalence of PCS in Marchigiana and Romagnola breeds and of CI in Chianina breed, in the Central Italy territory. In the period 2022-2024, a frequency of 6.67% heterozygous PCS carriers was registered, while for CI, in 2024, a prevalence of 5.67% heterozygous carriers was observed. These findings show that cattle should be constantly monitored and the genotyping of causal variant should be used, at least for excluding risk matings of carriers to prevent further animal losses due to these two congenital disorders.
一些牛的遗传性疾病和性状已在分子水平上得到表征，确定了DNA位点中的致病基因变异。同样，位于亚平宁山脉的三个主要意大利本土肉牛品种（契安尼娜牛、马尔凯牛和罗马涅拉牛）也受到了这一发现的影响。意大利肉牛的遗传选择由意大利肉牛养殖者全国协会实施，目的是提高肉类产量、生长能力和肌肉发育。在此背景下，牛，特别是那些在系谱书中有登记谱系的牛，必须不断监测主要的先天性和遗传性疾病，其中包括“腹大犊牛综合征”和“先天性鱼鳞病”。腹大犊牛综合征（PCS）与17号染色体上KDM2B基因的错义变异有关，而先天性鱼鳞病（CI）是由FA2H基因中插入一个胞嘧啶导致18号染色体上的移码引起的。这项工作的目的是介绍意大利中部地区马尔凯牛和罗马涅拉牛品种中PCS的患病率以及契安尼娜牛品种中CI的患病率的最新情况。在2022 - 2024年期间，登记的杂合PCS携带者频率为6.67%，而对于CI，在2024年，观察到杂合携带者的患病率为5.67%。这些发现表明，应该持续监测牛群，并使用因果变异的基因分型，至少用于排除携带者的风险交配，以防止因这两种先天性疾病造成进一步的动物损失。
