鸭ChREBP基因多态性与血清生化指标关联性分析

鸭ChREBP（carbohydrate response element binding protein,碳水化合物反应元件结合蛋白）,是鸭糖酵解脂肪酸从头合成的重要调节因子之一,对调节机体糖脂代谢平衡有重要作用;本研究以PCR-SSCP结合直接测序对三穗鸭、兴义鸭、樱桃谷鸭3个鸭品种ChREBP基因外显子1、2、3、6、9、10、11、12、13进行多态性检测,分析SNPs位点与血清生化指标的关联性及对各指标的加、显性效应;结果显示,仅在樱桃谷鸭的外显子9中检测到了g.246911 G〉A突变,表明鸭ChREBP基因具有良好的保守性,产生了AA、AB、BB三种基因型,A和B两个等位因,B和BB分别为该位点的优势等位基因和优势基因型,其频率为0.575和0.450,多态信息含量（PIC）为0.369,属于中度多态,卡方（χ^2）检验发现,该g.246911G〉A突变位点的基因型分布在樱桃谷鸭群体中严重偏离了Hardy-Weinberg平衡,可能是因为长期人工选择的原因,关联性分析结果表明,AA基因型个体的血清生化指标除低密度脂蛋白没有达到显著水平外,其他指标均显著地高于BB基因型个体（p〈0.05）,加、显性效应显示,该位点对总蛋白、白蛋白、球蛋白、高密度脂蛋白、低密度脂蛋白、总胆固醇具有显著的加性效应（p〈0.05）,对总蛋白和白蛋白有显著的负显性效应（p〈0.05）;推测g.246911G〉A为有利突变,AA和A分别为有利基因型和等位基因,可作为今后选育优秀生长性状樱桃谷鸭的遗传标记位点。

Polymorphism of ChREBP Gene and its Association with Serum Biochemical Level in Ducks

Carbohydrate response element binding protein（ChREBP） is one of the important regulatory factors and plays a crucial role in regulating lipogenesis and glucose utilization, the study detected polymorphism of the exon 1, exon 2, exon 3, exon 6, exon 9, exon 10, exon 11, exon 12 and exon 13 of ChREBP gene by PCR-SSCP and sequencing in Sansui ducks, Xingyi ducks and Cherry valley ducks, analysis on the association of SNPs loci with serum biochemical levels and additive and dominant effect on different serum biochemical levels from the detected polymorphism loci. The results showed that mutation only was detected in exon 9 of ChREBP gene from Cherry valley ducks, and it is g.246911 G〉A（the serial number is from genome）, it means that ChREBP gene sequence is highly conserved in ducks, and 3 genotypes were found, which is AA, AB and BB respectively, 2 allele are A and B, and BB genotype and B allele is the superior genotype and allele, the frequency is 0.450 and 0.575,the polymorphism information content（PIC） is 0.369, it belongs to moderate polymorphism, the χ^2 test dedicated that genotype distribution seriously deviated from Hardy-Weinberg equilibrium, it is caused by long-term artificial selection. The associated results showed that all of the serum biochemical levels of AA genotype groups are higher than BB genotype groups except for LDL（low density lipoprotein）（p〈0.05）, the analysis of additive and dominant effects dedicated that the g.246911 G〉A loci has an significant positive effects on total protein, albumin, globulin,HDL（high density lipoprotein）, LDL and total cholesterol（p〈0.05）, and it has an significant negative dominant effects on total protein and albumin. In conclusion, the study predicted the g.246911 G〉A is useful mutation, AA genotype and A allele may be the helpful genotype and allele, it can be as the reference of selecting excellent growth efficiency in Cherry valley ducks.