Temizkan Mehmet Cevat, Sonmez Gonca, Sayar Emre
Faculty of Veterinary Medicine. Department of Genetics, Yozgat Bozok University, Yozgat, Türkiye.
Faculty of Veterinary Medicine, Department of Genetics, Selcuk University, Konya, Türkiye.
Vet Med Sci. 2025 Jul;11(4):e70442. doi: 10.1002/vms3.70442.
Hereditary diseases in cattle lead to economic losses across various breeds worldwide, with arachnomelia syndrome being one such disorder found in Simmental cattle. Arachnomelia results from a recessively inherited loss-of-function variant in the MOCS1 gene detected only in Simmentals. In Türkiye, prior research on hereditary cattle diseases has focused exclusively on dairy breeds, particularly Holstein. This study marks the first investigation in Türkiye of a genetic disease in a dual-purpose breed that is also valued for its beef traits. For this purpose, blood samples were collected from 387 Simmental cattle in Yozgat, Türkiye. The variant MOCS1 allele was analysed, and the results revealed four heterozygous samples carrying the causal two-nucleotide frameshift deletion, as confirmed by Sanger sequencing. This research provides the first detection of arachnomelia in Türkiye, with a prevalence of 1.03% heterozygous carriers in the population studied. To eliminate arachnomelia, screening of Simmental and Simmental-cross cattle is recommended, with the avoidance of carrier matings to prevent the birth of affected calves.
牛的遗传疾病在全球各个品种中都会导致经济损失,蜘蛛状肢畸形综合征就是西门塔尔牛中发现的一种此类病症。蜘蛛状肢畸形是由仅在西门塔尔牛中检测到的MOCS1基因隐性遗传的功能丧失变异引起的。在土耳其,之前对牛遗传疾病的研究仅集中于奶牛品种,尤其是荷斯坦奶牛。本研究是土耳其首次对一个因其牛肉性状也具有价值的兼用型品种的遗传疾病进行调查。为此,从土耳其约兹加特的387头西门塔尔牛采集了血样。对MOCS1变异等位基因进行了分析,结果显示有4个杂合样本携带导致病变的两核苷酸移码缺失,经桑格测序确认。本研究首次在土耳其检测到蜘蛛状肢畸形,在所研究的群体中杂合携带者的患病率为1.03%。为消除蜘蛛状肢畸形,建议对西门塔尔牛和西门塔尔杂交牛进行筛查,避免携带致病基因的牛交配,以防止出生患病犊牛。