小尾寒羊TFB2M基因遗传变异分析

Analysis of genetic variation of TFB2M for Small-tailed Han sheep

试验旨在分析小尾寒羊线粒体基因转录因子B2(Mitochondrial Transcription Factors B2,TFB2M)基因遗传变异,采集小尾寒羊血液,采用直接测序方法,对该基因8个外显子、5’-UTR和3’-UTR多态位点进行分析。结果发现,编码区错义突变1个(G226A,GCC→ACC)导致76位苏氨酸变为丙氨酸,5’-UTR发现一处颠换(C58G);3’-UTR有三个突变位点(C98G、A206G和A429T)。生物学软件对启动子和5’-UTR转录因子预测结果显示共有54个转录因子结合位点,5’-UTR 58bp处没有结合位点,因此,该突变并没有改变结合位点。本研究为绵羊TFB2M基因变异及其功能研究奠定了分子生物学基础。

In order to discusse genetic variation of TFB2M, the polymorphism in 8 exons, 5＇-UTR and 3＇-UTR were analyzed through gene sequencing of Small-tailed Ban sheep. The results demon- strated that there were one missense mutations （G226A, GCC→ACC）, which lead to the threonine change to alanine, one transversion C58G in 5＇-UTR, and three substitutions C98G, A206G, A429T in 3＇-UTR. Bioinformatics toos was used to predict the promoter and 5＇-UTR transcription factor, it indicated that 54 transcription factor binding sites were found, however, the substitution （C58G） did not change the binding site. This work provided the molecular biological foundation for the variation and function of TFB2M gene in sheep.