中文摘要：

为研究MTNR1A基因多态性与绵羊季节性繁殖的关系,以季节性发情的阿勒泰羊和常年发情的湖羊为研究对象,分别随机选择2品种羊的基因组各50份混合构建DNA池,并以此为模板扩增绵羊MTNR1A基因5′侧翼序列、ExonⅠ及ExonⅡ,通过测序检测MTNR1A基因在阿勒泰羊和湖羊群体的突变。在对突变进行分析的基础上,于5′侧翼序列选择2处转录因子结合的突变位点,利用PCR-SSCP技术检测其在200只阿勒泰羊和210只湖羊中的多态性分布,并分析其与绵羊季节性繁殖性状的关联性。结果表明,MTNR1A基因5′侧翼序列、ExonⅠ及ExonⅡ在阿勒泰羊和湖羊群体中分别检测到18、1和9处突变,TF Search和Signal Scan分析显示,5′侧翼序列的18处突变中有4处分别处于转录因子TBP、GR、SP1和c-Myb的结合位点处,预测评分分别为98.5、95.2、97.6和94.9。ExonⅠ及ExonⅡ中检测到的10处突变中,有4处突变为错义突变,6处突变为同义突变,但均不在MTNR1A的跨膜区。PCR-SSCP检测结果显示,g.15143697位点的T/C突变在湖羊群体中以CC基因型为主,其基因型频率达到0.919,而在阿勒泰羊中以TT基因型为主,基因型频率为0.950,阿勒泰羊群体中T等位基因的比例为湖羊群体的550倍,推测该位点可能与绵羊的季节性发情有关。

英文摘要：

To investigate the relationship of polymorphism of MTNR1 A gene and seasonal reproduction of sheep,Altay sheep breed with seasonal reproduction trait and Hu sheep breed with non seasonal reproduction trait were chosen,and total 100 DNA samples of them were mixed to get a DNA pool,then PCR were applied to amplify the 5′flank region,ExonⅠand ExonⅡ of MTNR1 A gene to test DNA mutation in Altay and Hu sheep population.Then two SNP of 5′flank region,which may be the locus of transcription factors,were chosen to investigate the polymorphism in 200 Altay sheep and 210 Hu sheep,and analyze the relationship with seasonal reproduction of sheep.The resultshowed that 18,1and 9SNPs were detected in 5′flank region,ExonⅠand ExonⅡ of MTNR1 A gene respectively in Altay and Hu sheep population.4of 18 SNPs in 5′flank region were located on the locus of transcription factor TBP,GR,SP1 and c-Myb,according to the analysis result of TF Search and Signal Scan software,and the forecast points were 98.5,95.2,97.6and 94.9respectively.10 SNPs were detected in ExonⅠand ExonⅡ,4of them were missense mutation and 6were synonymous mutation,but they all were not in transmembrane domain of MTNR1 A.The result of PCR-SSCP showed that the CC genotype of in g.15143697 locus was main genotype in Hu sheep population,and the genotype frequency was 0.919,on the contrary,TT genotype was main genotype in Altay sheep population,the genotype frequency was 0.950,the T allele frequency of Altay sheep was 550 times than Hu sheep,so it may be connected with seasonal reproduction trait of sheep breed.