Development and application of arachnomelia syndrome genetic detection in four Chinese dual-purpose cattle populations.

Arachnomelia syndrome (AS) is an autosomal recessive hereditary disorder in cattle, and affected calves are usually stillborn and characterized by complex anomalies. Therefore, identification of the carrier animals based on genetic tests is important for the control and elimination of this defect. The aim of this study was to build an effective workflow to routinely screen the AS mutations in bovine MOSC1 and SUOX genes and determine individuals carrying the AS mutations in four Chinese cattle populations. By combining the fluorescence-labeled PCR and capillary electrophoresis, we established a convenient and cost-effective workflow to detect two AS casual mutations simultaneously. Sanger sequencing was further used as a validation criterion and showed that 100% of the tests (37/37) had consistent results with genotype calls determined by our established workflow. Then, 582 bulls and 1-926 cows from Chinese dual-purpose cattle populations of Simmental, Sanhe, Shuxuan, and Xinjiang Brown were subjected to AS detection. The results showed that four bulls and 11 cows in the Simmental population, and six bulls and six cows in the Sanhe population were identified as AS carriers with the MOCS1 mutation c.1224_1225delCA. However, no animal was found to carry the c.363_364insG mutation in the SUOX gene. The frequencies of AS carriers were 1.08% and 1.65% in the Simmental and Sanhe populations, respectively, with a frequency of 1.076% in four populations. The pedigree analysis found that all carriers could be traced back to a common ancestor, the German Simmental sire ROMEL. Those findings suggested that this genetic defect spread into China mainly through the wide use of ROMEL. In conclusion, the occurrence of AS has not had a wide impact on the Chinese cattle industry; however, a screening system and mating strategy should be employed to gradually eliminate this recessive gene from the Chinese dual-purpose cattle population.