从江香猪CYP1A2基因4个外显子的多态性

Polymorphisms of Four Exons in Congjiang Xiang-pig Gene CYP1A2

为探明从江香猪细胞色素P450氧化酶CYP1A2基因的标签SNPs,以及积累从江香猪药物代谢酶的基础资料,采用直接测序法对从江香猪CYP1A2基因外显子1、4、5和6进行多态性分析。结果表明：第1外显子存在11个多态位点（g.98G→A、g.147C→G、g.189C→T、g.198C→T、g.211A→G、g.231C→T、g.328T→C、g.338C→A、g.352T→C、g.458G→A和g.778G→A）,优势基因型分别为GG、CC、TT、CC、GG、CC、CC、AA、CC、AA和AA,优势等位基因分别为G、C、T、C、G、C、C、A、C、A和A,多态信息含量为0.073 2~0.160 0,有效等位基因数为1.082 3~1.212 7,纯合度为0.827 3~0.920 9,杂合度为0.079 1~0.172 7,香农信息指数为0.166 6~0.318 7,群体处于Hardy-Weinberg平衡状态（P〉0.05）。第4外显子存在1个多态位点g.1087C→G,优势基因型为CC,优势等位基因为C,多态信息含量为0.3642,有效等位基因数为1.918 8,纯合度为0.673 8,杂合度为0.326 2,香农信息指数为0.671 8,群体偏离HardyWeinberg平衡（P〈0.05）。第5、6外显子未发现多态性。从江香猪CYP1A2基因第1外显子多态位点丰富,位点纯合度高、变异性小,具备药物代谢动物模型开发的良好基础,但多态信息含量不足,连锁分析或关联分析时需谨慎选择。第4外显子多态位点少,但位点的多态信息含量合适,可用作连锁分析及关联分析的标签SNP。

Polymorphisms of Congjiang Xiang-pig gene CYP1A2 exon 1,4,5and 6were detected,in order to discover the tag SNPs in pig gene CYP1A2 and accumulate basic data of drug metabolism enzyme of Congjiang Xiang-pig.Results showed that 11 polymorphic loci（g.98G〉A,g.147C〉G,g.189C〉T,g.198C〉T,g.211A〉G,g.231C〉T,g.328T〉C,g.338C〉A,g.352T〉C,g.458G〉A and g.778G〉A）existed in exon 1,the preponderant genotype were GG,CC,TT,CC,GG,CC,CC,AA,CC,AA and AA respectively,the preponderant allele were G,C,T,C,G,C,C,A,C,A and A respectively,polymorphism information contents were 0.0732 to 0.1600,the numbers of effective alleles were 1.082 3to 1.212 7,homozygosities were 0.8273 to 0.9209,heterozygosities were 0.079 1to 0.172 7,Shannon information indexes were 0.166 6to 0.3187,and population was in Hardy-Weinberg equilibrium state（P〉0.05）.one polymorphic locus,i.e.g.1087C〉G existed in exon 4,the preponderant genotype was CC,the preponderant allele was C,polymorphism information content was 0.3642,the effective number of alleles was 1.9188,homozygosity was 0.6738,heterozygosity was 0.326 2,Shannon’s information index was 0.6718,and population deviated from Hardy-Weinberg equilibrium（P〈 0.05）.No polymorphism was detected in exon 5and 6.It was indicated that genetic polymorphism loci of CYP1A2 gene exon 1in Congjiang Xiang-pig are rich,and have properties of high homozygosities and low genetic variabilities,which lay the foundation for using Congjiang Xiang-pig as animal model of drug metabolism.But,because polymorphism information contents are insufficient,these polymorphism loci should be cautious when linkage analysis and（or）association analysis are conducted.In exon 4,the number of genetic polymorphism loci is few,but polymorphism information content is appropriate,which hint this genetic polymorphism locus can be used as the tag SNP for linkage analysis and（or）association analysis.