发表于畜牧兽医学报,43(3)52-55,2012.docVIP

发表于：畜牧兽医学报, 43（3）：52-55 2012. 荷斯坦公牛CN 和 DUMPS 摘要本通过PCR-RFLP2头CN和1DUMPS隐性有害基因携带者，分别0.34%和0.17%。CN携带者Linmack kriss king-CN后代，DUMPS携带者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。 关键词：中国荷斯坦牛；CN；DUMPS；遗传缺陷 Detection of CN and DUMPS carriers in Holstein bulls and pedigree analysis Abstract: With PCR-RFLP technique, we herein first extensively screened two recessive inherited defects, i.e. CN and DUMPS, in 591 Holstein bulls entering the national progeny test program and subsidizing for outstanding breeding bull project, also a novel AS-PCR method for CN was developed. We found 2 CN carrier bulls and 1 DUMPS carrier so that the proportion of carrier bulls for such two disorders was 0.34% and 0.17%, respectively. Through pedigree analysis, the two CN carriers were the descendants of Linmack kriss king, and the DUMPS carrier was Skokie sensation Ned，s offsprinbasis of our findings, authors believed it is necessary to establish early monitor system on genetic defects in all Holstein young and proven bulls and suspect cows and to put such information in their pedigrees. Through young bull pre–selection and mating system, carrier bulls could be avoided to enter the national genetic improvement of dairy cattle program, frequencies of the undesired recessive alleles could be greatly decreased as well. Key word: Chinese Holstein, CN, DUMPS, genetic defect 随着，种质产品（个体、冻精、胚胎等）在世界范围内广泛流通，使得优秀资源充分利用。但，会将遗传缺陷也进行扩散，尤其是常染色体隐性遗传缺陷，由于其携带个体表型正常，导致传播基因几率非常大。。 （itrullinemia, CN）Harper等在澳大利亚荷斯坦牛群中发现[1]。其11号染色体（BTA11）（rgininosuccinate synthetase, ASS）基因编码的第86（CGA→TGA），肽链，成隐性纯合个体ASS功能缺失[2]犊牛出生时健康，一般在24内发病，表现为逐渐加重的神经症状，，从出生到发病再到死亡的全过程不超过一周[3-4]。Linmack Criss King[5]。公牛由于其女儿乳脂率，其冻精在澳大利亚、新西兰等英联邦国家广泛，[4-5]，也相继也传播到世界各国。 尿苷酸合酶缺乏症（deficiency of uridine momophophate synthase, DUMPS）也是一种[6-7]。Schwenger等人在1993年发现杂合子的UMPS基因C-末端405密码子处存在着一个C/T点突变，可导致精氨酸CGA突变为终止子TGA，76个氨基酸[]。隐性纯合子胚胎，由于体内尿苷酸合酶活性几乎完全丧失不能生成嘧啶核苷酸，在母畜妊娠40-50天左右死