中文摘要：

本研究旨在研究中国荷斯坦公牛脊椎畸形综合征（Complexvertebralmalformation，CVM）和尿苷酸合酶缺乏症（Deficiencyofuridinemonophosphatesynthase，DUMPS）两种遗传缺陷的携带者及系谱来源。通过PIRA—PCR和PCR—RFLP方法对参加全国青年公牛联合后裔测定和国家良种补贴项目的、来自全国27个公牛站的691头荷斯坦公牛分别进行了CVM和DUMPS的遗传缺陷检测，共发现34头CVM和1头DUMPS隐性有害基因携带者公牛，携带者比例分别为4．92％和0．14％，隐性有害等位基因频率分别为2．46％和0．07％。经过系谱分析发现，其中28头CVM携带者均为美国公牛Carlin—MIvanhoeBell的后代，另外6头因系谱不完整而无法查询。1头DUMPS携带者为美国公牛SkokieSensationNed后代。因此，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，通过青年公牛预选和选种选配，避免携带者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隐性有害等位基因频率，为提高奶牛群体质量提供依据。

英文摘要：

Complex vertebral malformation （CVM） and deficiency of uridine monophosphate synthase （DUMPS） are two of Holstein-specific autosomal recessive disorders. This study is aimed to detect carriers of both CVM and DUMPS in Chinese Holstein bulls. 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 and DUMPS among 691 Holstein bulls from 27 bull breeding stations participating in the national progeny test bulls program. As a result, a total of 34 CVM carriers and a DUMPS carrier were identified. The recessive allele frequency of CVM and DUMPS is 2.46% and 0.07%, respectively. After pedigree analysis, out of 34 CVM carriers, 29 bulls are found to the offspring of American Holstein bull ＂Carlin-M Ivanhoe Bell＂, and 5 bulls＇ pedigrees are incomplete. DUMPS carrier is the U.S. bull ＂Skokie Sensation Ned＂ offspring. Based on this, in our country, it is necessary to establish Holstein recessive genetic defect monitoring system as soon as possible and conduct genealogy marked by pre-selection and selection of young bulls matching. 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.