Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibi...Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibility and milk performance.Methods Based on bovine PRNP gene sequence,two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed.The PCR amplification and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations.Moreover,based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study,the corrections between the two indel mutations and BSE susceptibility were tested,as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses.Results In the analyzed Chinese Holstein population,the frequencies of two"del"alleles in 23 bp and 12 bp indel muations were more frequent.The frequency of haplotype of 23del-12del was higher than those of 23del-12ins and 23ins-12del.From the estimated r2and D’values,two indel polymorphisms were linked strongly in the Holstein population(D’=57.5%,r2=0.257).Compared with the BSE-affected cattle populations from the reported data,the significant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations(P<0.05 or P<0.01).Similarly,there were significant frequency distribution differences of genotypes and alleles among Chinese Holstein and several previous reported healthy dairy cattle(P<0.05 or P<0.01).Moreover,association of genotype and combined genotypes of two indel polymorphisms with milk performance and resistant mastitis traits were analyzed in Holstein population,but no significant differences were found(P>0.05).Conclusions These observations revealed that the influence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits,wh展开更多
PRDM6属于PRDM蛋白家族的一员,PRDM6基因编码1个转录抑制因子,具有与DNA、RNA、蛋白质结合的能力,同时还具有组蛋白赖氨酸N-甲基转移酶活性。全基因组关联分析结果显示,PRDM6基因遗传变异与骨密度和体质量等性状显著相关,且该基因插入/...PRDM6属于PRDM蛋白家族的一员,PRDM6基因编码1个转录抑制因子,具有与DNA、RNA、蛋白质结合的能力,同时还具有组蛋白赖氨酸N-甲基转移酶活性。全基因组关联分析结果显示,PRDM6基因遗传变异与骨密度和体质量等性状显著相关,且该基因插入/缺失(Indel)遗传变异还被发现与陕北白绒山羊的多个生长性状显著相关。因此,本研究将PRDM6基因作为研究对象,以期挖掘到与内蒙古绒山羊生长性状相关的关键遗传变异位点。结合Ensembl数据库提供的山羊PRDM6遗传变异信息和已发表文章中的遗传变异位点,本研究探究了2个InDel位点(rs656578433、rs651603667)多态性及其在内蒙古绒山羊群体中的分布规律。发现在本研究检测的群体中,只有第一内含子区的12 bp InDel(rs651603667)存在多态性。不同基因型与生长性状的关联分析结果显示,rs651603667存在3种基因型,即纯合插入型(II)、杂合型(ID)和纯合缺失型(DD),频率分别为0.399、0.444、0.159。在育成羊群体中,此rs651603667突变与体质量、胸深显著相关(P<0.05);在成年羊群体中,rs651603667突变与体长、髋宽显著相关(P<0.05),和体高、胸深极极显著相关(P<0.01);此外,皮尔逊(Pearson)相关分析结果显示,该突变位点显著影响的生长性状均与体质量存在极显著相关(P<0.01)。综上,PRDM6基因12 bp InDel突变位点与内蒙古绒山羊体长、髋宽和体高、胸深具有显著或极显著相关性,可作为内蒙古绒山羊生长性状选育的有效分子标记。展开更多
基金supported by the National Natural Science Foundation of China (Grant No. 31272408 30972080)+2 种基金the National 863 Program of China (Grant No. 2013AA102505)the Program of National Beef Cattle and yak Industrial Technology System (CARS-38)the Agricultural Science and Technology Innovation Projects of Shanxi Province (No. 2012NKC01-13).
文摘Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibility and milk performance.Methods Based on bovine PRNP gene sequence,two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed.The PCR amplification and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations.Moreover,based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study,the corrections between the two indel mutations and BSE susceptibility were tested,as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses.Results In the analyzed Chinese Holstein population,the frequencies of two"del"alleles in 23 bp and 12 bp indel muations were more frequent.The frequency of haplotype of 23del-12del was higher than those of 23del-12ins and 23ins-12del.From the estimated r2and D’values,two indel polymorphisms were linked strongly in the Holstein population(D’=57.5%,r2=0.257).Compared with the BSE-affected cattle populations from the reported data,the significant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations(P<0.05 or P<0.01).Similarly,there were significant frequency distribution differences of genotypes and alleles among Chinese Holstein and several previous reported healthy dairy cattle(P<0.05 or P<0.01).Moreover,association of genotype and combined genotypes of two indel polymorphisms with milk performance and resistant mastitis traits were analyzed in Holstein population,but no significant differences were found(P>0.05).Conclusions These observations revealed that the influence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits,wh
文摘PRDM6属于PRDM蛋白家族的一员,PRDM6基因编码1个转录抑制因子,具有与DNA、RNA、蛋白质结合的能力,同时还具有组蛋白赖氨酸N-甲基转移酶活性。全基因组关联分析结果显示,PRDM6基因遗传变异与骨密度和体质量等性状显著相关,且该基因插入/缺失(Indel)遗传变异还被发现与陕北白绒山羊的多个生长性状显著相关。因此,本研究将PRDM6基因作为研究对象,以期挖掘到与内蒙古绒山羊生长性状相关的关键遗传变异位点。结合Ensembl数据库提供的山羊PRDM6遗传变异信息和已发表文章中的遗传变异位点,本研究探究了2个InDel位点(rs656578433、rs651603667)多态性及其在内蒙古绒山羊群体中的分布规律。发现在本研究检测的群体中,只有第一内含子区的12 bp InDel(rs651603667)存在多态性。不同基因型与生长性状的关联分析结果显示,rs651603667存在3种基因型,即纯合插入型(II)、杂合型(ID)和纯合缺失型(DD),频率分别为0.399、0.444、0.159。在育成羊群体中,此rs651603667突变与体质量、胸深显著相关(P<0.05);在成年羊群体中,rs651603667突变与体长、髋宽显著相关(P<0.05),和体高、胸深极极显著相关(P<0.01);此外,皮尔逊(Pearson)相关分析结果显示,该突变位点显著影响的生长性状均与体质量存在极显著相关(P<0.01)。综上,PRDM6基因12 bp InDel突变位点与内蒙古绒山羊体长、髋宽和体高、胸深具有显著或极显著相关性,可作为内蒙古绒山羊生长性状选育的有效分子标记。
