| 谢海强，杨永强，宋桃伟，孙岩岩，刘彬，罗卫星，张依裕，刘若余.贵州白山羊和黔北麻羊TFAM 基因部分外显子多态性研究[J].广东农业科学,2013,40(16):138-140 |
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贵州白山羊和黔北麻羊TFAM 基因部分外显子多态性研究 |
| Study on the SNP in part of TFAM exon of Whit Goat of Guizhou and Qianbei Ma Goat |
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| DOI： |
| 中文关键词: FAM SNPs 肌内脂肪沉积 黔北麻羊 贵州白山羊 |
| 英文关键词: TFAM SNPs intramuscular fat deposition Qianbei Ma Goat White Goat of Guizhou |
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| 中文摘要: |
| 利用黔北麻羊和贵州白山羊构建品种DNA 池，设计1对引物分别扩增其TFAM 基因第2 外显子及第1 内含子部分
序列。PCR产物纯化后进行双向测序,DNAStar 和BLAST分析确定多态性位点。利用生物信息学软件分析SNPs 位点对TFAM 基因RNA 二级结构和TFAM蛋白二级、三级结构的影响。结果表明：在羊TFAM基因中筛选到5个SNPs：T1005C、G1099C、A1130C、G1164C、T1287C，其中T1005C 为同义突变，G1099C 为错义突变，导致编码的甘氨酸（Gly）变为半胱氨酸（Cys）；A1130C、G1164C、T1287C 3个突变位点均位于内含子区。SNPs 位点对TFAM基因RNA 二级结构和TFAM蛋白结构有一定影响。 |
| 英文摘要: |
| Qianbei Ma Goat and White Goat of Guizhou were used to construct DNA pools, the complete sequences of extro 2 and part of intron 1 region in TFAM of the two breeds were obtained by designing one pair of specific primers. Then by conducting bidirectional sequencing after purification of PCR production subsequently. DNAStar and BLAST software were used to identify polymorphisms of goat TFAM genes. Moreover, through bioinformatics software to analyze the impact of secondary structure of RNA, secondary structure and tertiary structure of TFAM protein. The results showed that five SNPs (T1005C, G1099C, A1130C, G1164C, T1287C) were found in TFAM which included one missense mutation (G1099C, Gly--Cys), one synonymous mutation (T1005C, Val) and the other SNPs located in intron region respectively. The polymorphisms might lead to secondary structure change of RNA and the structure change of TFAM protein. |
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