CAJ | 학술논문

本文旨在研究天津地区中国荷斯坦公牛脊椎畸形综合征（Complexvertebralmalformation，CVM）、尿苷酸合酶缺乏症（Deficiencyofuridinemonophosphatesynthase，DUMPS）和瓜氨酸血症（Citrullinemia，CN）3种遗传缺陷的携带者比率及系谱来源。通过PIRA-PCR和PCR-RFLP方法分别对天津奶牛发展中心参加全国青年公牛联合后裔测定和国家良种补贴项目的110头荷斯坦公牛进行了CVM、DUMPS和CN三种遗传缺陷检测。共发现6头CVM隐性有害基因携带公牛，携带者比例为5.45%，隐性有害等位基因频率为2.72%。经过系谱分析，其中4头CVM携带者均为美国公牛Carlin-MIvanhoeBell的后代，另外2头因系谱不完整而无法查询。未检测到DUMPS和CN隐性有害基因携带者。基于此，我国有必要尽快建立荷斯坦牛隐性遗传缺陷监控体系并进行系谱标注，避免携带公牛进入后裔测定和良种补贴项目，以逐步降低我国奶牛群体中遗传缺陷隐性等位基因频率。
본문지재연구천진지구중국하사탄공우척추기형종합정（Complexvertebralmalformation，CVM）、뇨감산합매결핍증（Deficiencyofuridinemonophosphatesynthase，DUMPS）화과안산혈증（Citrullinemia，CN）3충유전결함적휴대자비솔급계보래원。통과PIRA-PCR화PCR-RFLP방법분별대천진내우발전중심삼가전국청년공우연합후예측정화국가량충보첩항목적110두하사탄공우진행료CVM、DUMPS화CN삼충유전결함검측。공발현6두CVM은성유해기인휴대공우，휴대자비례위5.45%，은성유해등위기인빈솔위2.72%。경과계보분석，기중4두CVM휴대자균위미국공우Carlin-MIvanhoeBell적후대，령외2두인계보불완정이무법사순。미검측도DUMPS화CN은성유해기인휴대자。기우차，아국유필요진쾌건립하사탄우은성유전결함감공체계병진행계보표주，피면휴대공우진입후예측정화량충보첩항목，이축보강저아국내우군체중유전결함은성등위기인빈솔。
This study is aimed to detect carriers of Complex vertebral malformation (CVM), deficiency of uridine monophosphate synthase (DUMPS) and Citrullinemia (CN) in Chinese Holstein bulls in Tianjin area. Polymerase chain reaction-primer introduced restriction analysis (PIRA-PCR) and restriction fragment length polymorphism (PCR-RFLP) methods were used to detect the alleles of CVM, DUMPS and CN among 110 Holstein bullsparticipating in the national progeny test bulls program. As a result, a total of 6 CVM carriers were identiifed. The recessive allele frequency of CVM is 5.45%. After pedigree analysis, out of 6 CVM carriers, 4 bulls are found to the offspring of American Holstein bull“Carlin-M Ivanhoe Bell”, and 2 bulls’ pedigrees are incomplete. DUMPS and CN carrier didn’t be identiifed. Based on this, in our country, it is necessary to establish as soon as possible Holstein recessive genetic defect monitoring system and conduct genealogy marked. In order to gradually reduce the frequencies of recessive alleles of genetic disorders in Chinese dairy cattle population, bull carriers should be avoided entering the progeny test and national genetic improvement programs.