中文摘要：

牛凝血因子XI基因第9外显子15bp插入突变是近年在日本和牛中发现的一种遗传缺陷,导致凝血因子活性降低。为了分析该缺陷基因在我国牛群中的携带频率,本研究开发了能灵敏检测该突变的2种新方法,即毛细管电泳法和等位基因特异性扩增法,并检测了我国引进的和牛种公牛、1个含和牛血液的杂交育种群和商品群、4个国内地方品种（鲁西牛、延边牛、蒙古牛、复州牛）、2个培育品种（中国荷斯坦牛、新疆褐牛）和6个国外品种（西门塔尔、夏洛来、利木赞、安格斯、蒙贝利亚、挪威红牛）样品共452头份。结果显示,在和牛、含和牛血液的杂交育种群及商品群中突变基因频率分别为0.182、0.389和0.242,在延边牛中发现1头携带者,而在其余群体中均未检出,推测该突变可能只存在于东北亚和我国东北地区牛群中。今后我国在引进和牛用于杂交改良以及本地牛选育中需要对该突变进行分子检测和逐步淘汰,从而降低不利等位基因的频率。

英文摘要：

Factor XI deficiency caused by an insertion of 15 nucleotides in bovine Factor XI gene is a newly identified genetic defect that results in blood coagulation disorder in Japanese Black cattle.To analyze the distribution frequency of the defect gene in cattle population in China in current study,two new methods were developed（capillary electrophoresis-based genotyping and allele-specific amplification） to sensitively discriminate the alleles.Using these methods,452 individuals were genotyped from 14 cattle breeds or populations,including Japanese Black bulls,a breeding herd and a commercial herd with Japanese Black cattle blood,four Chinese local breeds（Luxi,Yanbian,Menggu,Fuzhou）,two composite breeds（Chinese Holstein,Xinjiang Brown）,and six foreign breeds（Simmental,Charolais,Limousine,Angus,Montbeliard,Norwegian Red）.The results showed that the defect allele frequency was 0.182,0.389 and 0.242 in Japanese Black bulls,the breeding herd and commercial herd with Japanese Black cattle blood,respectively,1 carrier was found in Yanbian cattle,and the mutation was not found in other cattle populations.The result suggest that the mutation only exist in cattle populations in Northeast Asia and Northeast region in China.The mutation will be detected and eliminated during crossing,improving and breeding the local cattle by Japanese Black cattle and then the unfavorable allele frequency will be reduced.