贵州宗地花猪的GDF9基因多态性及生物信息学分析

Polymerphism and Bioinformatics Analysis of GDF9 Gene in Zongdihua Pig from Guizhou

以贵州宗地花猪和贵州从江香猪2个地方猪种为研究对象,构建基因组DNA池,扩增GDF9基因第1外显子和第2外显子序列,采用直接测序法对2个品种的GDF9基因进行单核苷酸多态性进行检测,利用生物信息学软件预测不同多态性位点对GDF9基因m RNA二级结构、蛋白质二级结构的影响。结果表明,在2个品种中共检测到T^(997)A、C^(1009)T、T^(1014)C、G^(1137)T和A^(1196)T 5个SNPs位点,其全位于第二外显子上。T^(997)A、C^(1009)T和A^(1196)T均为错义突变。T^(997)A导致编码的苯丙氨酸(Phe)变为异亮氨酸(Ile)、C^(1009)T导致编码的亮氨酸(Leu)变为苯丙氨酸(Phe)、A^(1196)T导致编码的赖氨酸(Lys)变为甲硫氨酸(Met)。SNPs位点对于GDF9基因的m RNA二级结构、蛋白质二级结构有一定影响。

In this study, Zongdihua pig and Congjian pig from two local breeds of Guizhou were selected as experimental materials. By constructing DNA pools to amplify the all sequences of extron 1 and extron 2 on GDF9 gene, taking direct sequencing method to detect the single nucleotide polymorphisms on GDF9 gene of two varieties, the effects of different polymorphisms loci on m RNA and protein secondary structure of GDF9 gene were predicted by bioinformatics software. The results presented that 5 SNPs including T^(997) A, C^(1009) T, T^(1014) C, G^(1137) T and A^(1196) T were discovered to locate in extron 2, and among these SNPs, T^(997) A, C^(1009) T, and A^(1196) T were missense mutation, T^(997) A mutation leaded to phenylalanine(Phe) into isoleucine(Ile), C^(1009) T mutation leaded to leucine(Leu)into phenylalanine(Phe), A^(1196) T mutation leaded to lysine(Lys) into methionine(Met). SNPs sites might have some effects on m RNA secondary structure and protein secondary structure of GDF9 gene.