【摘要】 牛短脊椎综合征(Brachyspina syndrome,BS)是在荷斯坦牛群中发现的一种隐性遗传缺陷疾病,是由牛21号染色体上FANCI基因3 329bp碱基缺失突变引起的,隐性基因纯合时引起胚胎早期流产或畸形,给奶牛养殖者造成很大的经济损失。本研究利用长片段PCR方法对北京地区636头母牛样品进行了检测分析,研究结果表明,在所检测的奶牛群体中,BS有害遗传缺陷基因的携带率为6.8%,有害等位基因频率为3.4%,并通过系谱追踪发现,BS遗传缺陷可追溯到美国一头非常优秀的公牛Sweet Haven Tradition(USAM1682485,BY),其后代在我国有一定的影响。通过剔除BS携带者公牛可以有效控制BS遗传缺陷的传播,但是,我国部分BS携带者公牛冻精依然在商业化使用,所以,有效监控BS携带者在奶牛群中的状况对BS剔除计划是有益的。更多还原

【Abstract】 Brachyspina syndrome(BS) is a rare monogenic autosomal recessive hereditary disorder identified in the Holsteins that causes either early-term abortion or stillborn calves when an individual is homozygous recessive for the lethal gene, leading to great economic loss in dairy farms. It is caused by a 3329 bp deletion in the bovine Fanconi anemia complementation group I(FANCI) gene on chromosome 21. In this study, DNA samples from Holstein cows(n=636) in Beijing district were detected by long- PCR. The frequency of carriers was 6.8% in the Holstein cattle sample and the allelic frequency of the BS deleted mutation in the population was 3.4%. Our pedigree studies of the carrier cattle revealed that the mutation inherited to him from Sweet Haven Tradition(USAM1682485, BY) which have many progeny in China. Although the elimination of BS-carrier bulls would be the most efficient method to control this genetic disorder, many BS-carrier bulls are still listed commercially for AI in China. Monitoring the prevalence of BS-carriers in random selected herds may be helpful in judging the effectiveness of the BS-control program.更多还原