CAJ | 학술논문

牛脊椎畸形综合征（Complex vertebral malformation，CVM）是由牛3号染色体上SLC35A3基因第4外显子上的单碱基突变引起的隐性遗传疾病，其隐性纯合子可以造成妊娠母牛早期流产、死胎或出生犊牛畸形，而携带者表型正常。本研究利用PIRA-PCR方法对北京密云地区500头荷斯坦母牛样本进行了检测分析。结果表明，所检测的样本中，无CVM携带者。通过对调查地区荷斯坦母牛CVM携带情况的筛查，对该遗传缺陷在北京密云地区荷斯坦母牛群中的分布情况有了初步了解，并为CVM遗传缺陷的监控和合理选种选配提供了依据。
우척추기형종합정（Complex vertebral malformation，CVM）시유우3호염색체상SLC35A3기인제4외현자상적단감기돌변인기적은성유전질병，기은성순합자가이조성임신모우조기유산、사태혹출생독우기형，이휴대자표형정상。본연구이용PIRA-PCR방법대북경밀운지구500두하사탄모우양본진행료검측분석。결과표명，소검측적양본중，무CVM휴대자。통과대조사지구하사탄모우CVM휴대정황적사사，대해유전결함재북경밀운지구하사탄모우군중적분포정황유료초보료해，병위CVM유전결함적감공화합리선충선배제공료의거。
Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by single base mutation at the 4 extron in bovine solute carrier family 35, member 3 gene (SLC35A3). Homozygous recessive can cause early pregnancy abortion, stillbirth, or calf-birth deformities, but carriers are normal. Polymerase chain reaction–primer introduced restriction analysis (PIRA-PCR) was used to detect CVM among 500 Holstein cows from Miyun farms. As a result, none of carriers were identiifed. Based on this, we had preliminary understanding about the distribution of CVM carriers in Beijing, and provide the basis for CVM genetic defect monitoring and reasonable selection.