天津地区荷斯坦公牛CVM、DUMPS和CN遗传缺陷检测

本文旨在研究天津地区中国荷斯坦公牛脊椎畸形综合征（Complex vertebral malformation，CVM）、尿苷酸合酶缺乏症（Deftciencv of uridine monophospham synchase，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。

Identification of CVM,DUMPS and CN Carriers in Chinese Holstein Bulls in Tianjin Area

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 identified. 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 Arneriean Holstein bull ＂Carlin-M Ivanhoe Bell＂, and 2 bulls＇ pedigrees are incomplete. DUMPS and CN carrier didn＇t be identified. 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.