脊椎畸形综合征(Complex vertebral malformation, CVM)是由位于牛第3号染色体(BTA3)的SLC35A3基因外显子4的一个单碱基突变(G559T)所致。该致病基因在世界许多国家的荷斯坦牛群中都有一定的比例。文章对北京地区38头优秀种公牛进行分析, 发现了4头携带者, 进而检测了这些携带者公牛的555头女儿的基因型, 其中携带者占检测母牛数的44.0%。此外, 关联分析结果表明, 携带者母牛与非携带者母牛的生产性能之间存在显著差异(P<0.01)。携带者母牛的5个产奶性状育种值均显著高于非携带者, 泌乳持续力和体细胞评分SCS的育种值也比非携带者略高。CVM致病基因可能与BTA3上影响产奶性状的QTL或基因连锁。因此, 建议生产中对CVM携带者进行逐步淘汰

Complex vertebral malformation is caused by a single base mutation from G to T at the nucleotide position 559 in the bovine solute carrier family 35 member 3 (SLC35A3) gene exon 4 on Bos Taurus autosome (BTA) 3. The presence of the disease gene in Holstein dairy cattle has been reported in many countries. In this study, we examined 38 top Chinese Holstein sires in Beijing, four of which were identified as CVM carriers. Furthermore, 555 daughters of the four CV sires were examined and 44.0% of them were identified as heterozygotes at the mutation site. The association analysis between estimated breeding values (EBV) of dairy performance traits and the polymorphism showed that there were extremely sig-nificant differences between the carriers and the non-carriers (P<0.01). The EBVs of the five milk production traits of CVM carriers were significantly higher than those of non-carriers, and the lactation persistency and somatic cell score (SCS) were also higher in CVM carriers. Therefore, CVM gene seems to link with a QTL or gene associated with milk production traits on BTA3. It is recommended to cull the CVM carriers gradually for economical and breeding reasons.