CAJ | 학술논문

牛脊椎畸形综合征（CVM）是由牛3号染色体上SLC35A3基因第4外显子上的G/T突变引起的隐性遗传疾病，其隐性纯合子可以造成母牛妊娠早期流产、死胎或出生犊牛畸形，而CVM携带者表型正常，无发病表现。本研究利用PIRA-PCR方法对北京地区552头母牛样本进行了检测分析。研究结果表明，所检测的样本中，荷斯坦母牛CVM携带者为21头，携带率为3.80%，有害基因频率为1.90%。通过系谱分析，其中13头携带者的致病基因来源于其母亲，15头CVM携带者为Carlin-MIvanhoeBell(USA1667366)的后代。因此，牛场应当开展母牛CVM筛查，防止CVM携带个体之间的交配，减少经济损失。
우척추기형종합정（CVM）시유우3호염색체상SLC35A3기인제4외현자상적G/T돌변인기적은성유전질병，기은성순합자가이조성모우임신조기유산、사태혹출생독우기형，이CVM휴대자표형정상，무발병표현。본연구이용PIRA-PCR방법대북경지구552두모우양본진행료검측분석。연구결과표명，소검측적양본중，하사탄모우CVM휴대자위21두，휴대솔위3.80%，유해기인빈솔위1.90%。통과계보분석，기중13두휴대자적치병기인래원우기모친，15두CVM휴대자위Carlin-MIvanhoeBell(USA1667366)적후대。인차，우장응당개전모우CVM사사，방지CVM휴대개체지간적교배，감소경제손실。
Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the 4 extron in bovine solute carrier family 35, member 3 gene (SLC35A3). Homozygous recessive can cause early pregnancy abortion, stillbirth, or cow calf birth deformities, but carriers are normal. Polymerase chain reaction–primer introduced restriction analysis (PIRA-PCR) was used to detect CVM among 552 Holstein cows from Beijing. As a result, a total of 21 CVM carriers were identiifed. The frequency of carriers was 3.80% and the recessive allele frequency of CVM was 1.90%. Our pedigree studies of the carrier cattle in this experiment revealed that, out of 21 CVM carriers, 13 ones inherited mutation from those mothers and 15 ones were found to be the offspring of Carlin-M Ivanhoe Bell (USA1667366). Based on this, in our country, it is necessary to detect CVM among Holstein cows to prevent the CVM carriers mating and reduce economic losses.