中国荷斯坦公牛CN和DUMPS遗传缺陷检测及系谱分析

旨在研究中国荷斯坦牛中瓜氨酸血症(Citrullinemia,CN)和尿苷酸核酶缺乏症(Deficiency of uridinemonophosphate synthase,DUMPS)2种遗传缺陷的携带者比率及系谱来源,并构建更简便的检测方法。本研究通过PCR-RFLP方法对参加我国联合青年公牛后裔测定和良种补贴项目的591头荷斯坦公牛进行了大规模CN和DUMPS的遗传缺陷检测,并构建了奶牛CN隐性有害基因的AS-PCR检测技术。结果,共发现2头CN和1头DUMPS隐性有害基因携带者公牛,携带者比例分别为0.34%和0.17%。经过系谱追溯,2头CN携带者公牛均为澳大利亚公牛Linmack Kriss King-CN后代,DUMPS携带者公牛为美国公牛Skokie sensation Ned后代。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,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。

Detection of CN and DUMPS Carriers in Holstein Bulls and Pedigree Analysis

The aim of the present study was to detect the proportion of Holstein bull carrying two recessive genetic defects including citrullinemia(CN) and deficiency of uridine monophosphate synthase(DYMPS) and carry out the pedigreed analysis,a more easier diagnostic method was developed as well.The genetic defects of CN and DYMPS was detected by PCR-RFLP in 591 Holstein bulls,and the AS-PCR technology was constructed for detecting the CN recessive deleterious gene.2 CN carrier bulls and 1 DUMPS carrier bull were found,and the proportion of carrier bulls was 0.34% and 0.17%,respectively.Through pedigree analysis,the two CN carrier bulls were the descendants of Linmack Kriss King,and the DUMPS carrier bull was Skokie sensation Ned’s offsprings.The results indicate that it is necessary to establish early monitor system on genetic defects in all Holstein young,proven bulls and suspect cows,and put such information in their pedigree records.Through young bull pre-selection and selection and assortative mating system,carrier bulls could be avoided to enter into the national genetic improvement program,frequencies of the undesired recessive alleles could be greatly decreased as well.