摘要
[目的]信号转导及转录激活因子(STAT5A)基因主要参与哺乳动物乳腺组织中细胞因子的信号转导,对泌乳活动具有重要的调控作用。[方法]根据牛的STAT5A基因序列设计引物,本文采用直接测序和PCR-RFLP技术首次研究了槟榔江水牛STAT5A基因多态性。[结果]共检测到38个SNP位点,其中4个SNP位于外显子,34个SNP位于内含子,4个外显子SNP没有导致氨基酸的变化,属于同义突变。内含子15中的一个C/T变异产生了一个MspI酶切位点,因此我们建立了PCR-RFLP检测标记。本研究计算了24个SNP位点在槟榔江水牛群体中的等位基因频率及基因型频率,结果显示21个处于Hardy-Weinberg平衡状态,3个偏离Hardy-Weinberg平衡状态。[结论]本研究结果表明,槟榔江水牛STAT5A基因存在高度多态性,可能与槟榔江水牛的遗传背景有关。SNP的发现及PCR-RFLP标记的建立为进一步研究STA5A基因变异与槟榔江水牛经济性状的关系提供了重要基础资料。
[Objective]STATSA（Signal transducer and activator of transcription）gene mainly involves in signal transduction of cell factor in breast tissue in mammals,and has an important role in the regulation of lactation activities. [Method]Primers were designed based on reported cattle STAT5A gene sequence. Polymorphism of STATSA gene in Binlangjiang water buffalos was investigated by direct sequencing and PCR-RFLP for the first time. water buffalo population, in w [R hie esult]Total of 38 SNPs were found in STAT5A gene from Binglangjiang h four sited in exons and 34 in introns. The four exon SNPs were all syn onymous mutation which didn＇t cause amino acids changed. MspI PCR-RFLP genetic marker was estab lished to detect a C/T SNP at intron 15. The frequencies of allele and ed in Binglangjiang water buffalo, in which 21 SNPs were found to genotype follow H in 24 SNPs were estimatat ardy-Weinberg equilibrium, but the other 3 were not. [Conclusion]Our results showed that STAT5A existed highly polymorphism in Binglangjiang water buffalo population, and may be associated with Binlangjiang water buffalo genetic background. Characteristics of SNP and establishment of MspI PCR-RFLP in STATSA gene provide important genetic basis for further analyzing relationship between STAT5A gene mutation and economic traits.
出处
《中国牛业科学》
2012年第6期12-18,共7页
China Cattle Science
基金
云南省现代农业奶牛产业技术体系
作者简介
季敏（1987-），女，山东潍坊人，在读硕士研究生，主要从事动物遗传育种与繁殖方面的研究。
通讯作者：史宪伟（1962-），男，江苏丹阳人，教授，主要从事动物分子生物学研究。
