TOLLIP基因3′侧翼区的群体遗传多态分析

为了寻找TOLLIP基因的突变位点,揭示中国荷斯坦牛的群体遗传特征。以中国荷斯坦牛群体66头个体为研究对象,用PCR方法扩增了牛TOLLIP基因3′侧翼区的部分片段,通过直接电泳与测序相结合的方法检测该片段的多态性,计算基因型频率,基因频率和多态信息含量,分析该多态位点在中国荷斯坦牛群体中的遗传特征。结果表明,该扩增片段的第43 bp处存在5个碱基(TCGGG)的缺失,致使多态性产生。其AA,AB和BB的基因型频率分别为0.3485,0.5152和0.1364;A等位基因(243 bp)和B等位基因(238 bp)的频率分别为0.6061和0.3939;多态信息含量和杂合度分别为0.3635和0.4775,表明该缺失突变在中国荷斯坦奶牛群体中处于中度多态;χ2适合性检验结果表明,中国荷斯坦牛群体在该位点的缺失突变未达到Hardy-Weinberg平衡状态(P>0.05)。

Population Genetic Polymorphism Analysis on 3′ Flanking Region of TOLLIP Gene

The research aimed to seek the mutation sites of TOLLIP gene and reveal the population genetic characters of Chinese Holstein.With 66 cattles of Chinese Holstein population as the research objects,partial fragments of 3′ flanking region of bovine TOLLIP gene were amplified by PCR method.The polymorphism of this fragment was detected by the methods of combining direct electrophoresis with sequencing.The genotype frequency,gene frequency and polymorphism information content were calculated and the genetic characteristics of this polymorphic locus in the population of Chinese Holstein were analyzed.The results showed that there was the deletion of five bases(TCGGG) at the 43rd base pair of the amplified fragment,which caused the polymorphism.The genotype frequency of AA,AB and BB were 0.348 5,0.515 2 and 0.136 4 respectively.The frequency of allele A(243 bp) and B(238 bp) were 0.606 1 and 0.393 9 respectively.The polymorphism information content and heterozygosity were 0.363 5 and 0.477 5 respectively,which indicated the deletion mutation was moderate polymorphism in the population of Chinese Holstein.The results of χ2 fitness test showed that the deletion mutation of this site in the population of Chinese Holstein did not reach Hardy-Weinberg equilibrium state(P>0.05).