血吸虫反射(SR)是牛难产病例中最常见的先天性异常之一;这种疾病主要发生在牛中。先天性异常如SR是由各种遗传和环境因素引起的,但尚未阐明SR的具体原因。这项研究报告了韩国患有先天性异常的荷斯坦奶牛胎儿的SR病例。严重的,在胸椎和腰椎之间观察到明显的脊柱弯曲,伴有从骶骨到枕骨的相应畸形。此外,胸部和腹部器官暴露。在计算机断层扫描(CT)图像中,T1〜11和L1〜6分别观察到轻度和重度脊柱侧后凸。此外,S1〜5和Cd1〜5中观察到椎体发育不良。为了查明致病基因和突变,我们利用了自定义的50KHanwooSNP芯片和在线孟德尔动物遗传(OMIA)数据库。因此,我们发现HH1内凋亡蛋白酶活化因子1(APAF1)的无义突变与荷斯坦奶牛受胎率降低和流产增加有关.SR病例的基因型为A/A,作为对照组测试的1,142只正常荷斯坦奶牛中的大多数具有基因型G/G。此外,对照组不存在A/A基因型。基于病态,遗传,和放射学发现,观察到的先天性异常被诊断为SR。
Schistosomus reflexus (SR) is one of the most common congenital anomalies found in cases of cattle dystocia; this disorder occurs mostly in cattle. Congenital anomalies such as SR are caused by various genetic and environmental factors, but no specific cause has been elucidated for SR. This study
reports a
case of SR in a
Holstein dairy cattle fetus with congenital anomalies in Korea. Grossly, a distinct spine curvature was observed between the thoracic and lumbar vertebrae, accompanied by a consequential malformation from the sacrum to the occipital bone. Furthermore, the thoracic and abdominal organs were exposed. In computed tomography (CT) images, mild and severe kyphoscoliosis was observed in T1~11 and L1~6, respectively. Additionally, vertebral dysplasia was observed in S1~5 and Cd 1~5. To pinpoint the causal genes and mutations, we leveraged a custom 50K Hanwoo SNP-Chip and the Online Mendelian Inheritance in Animals (OMIA) database. As a result, we identified a nonsense mutation in apoptotic protease activating factor 1 (APAF1) within HH1 that was associated with a decrease in conception rate and an increase in abortion in
Holstein dairy cattle. The genotype of the SR
case was A/A, and most of the 1,142 normal
Holstein dairy cattle tested as a control group had the genotype G/G. In addition, the A/A genotype did not exist in the control group. Based on the pathological, genetic, and radiological findings, the congenital abnormalities observed were diagnosed as SR.