3个地方猪品种BOLL和STRA8基因结构变异位点的群体分布研究

为了探讨BOLL-I6-sv285（15号染色体BOLL基因第6内含子）和STRA8-I4-sv447（18号染色体STRA8基因第4内含子）这两个结构变异在地方猪与欧洲猪品种中的群体分布差异,试验采用PCR方法对从江香猪、江口萝卜猪、荣昌猪和大白猪4个猪品种进行基因分型,并通过在线软件miRBase、UCSC、RegRNA 2.0对结构变异序列所含的功能元件进行分析。结果显示,BOLL-I6-sv285为一段285 bp的插入,经群体验证,3个地方猪品种以DI和DD基因型为主,I等位基因的频率高于大白猪,插入基因型（Ⅱ）对应较高的产仔数,基因型与从江香猪产仔数之间呈显著相关（P<0.05）;STRA8-I4-sv447为一段447 bp的插入突变,群体中DD基因型占优势,从江香猪、江口萝卜猪和大白猪的I等位基因频率高于荣昌猪,插入基因型（Ⅱ）对应较低的产仔数,基因型与从江香猪产仔数之间呈显著相关（P<0.05）。本试验鉴定的BOLL-I6-sv285和STRA8-I4-sv447两个结构变异可作为从江香猪产仔数的候选分子标记。

Study on the Population Distribution of Two SV Sites in BOLL and STRA8 Genes of Three Indigenous Pig Breeds

To explore the differences of population distribution of two structural variations(BOLL-I6-SV285 from the intron 6 of BOLL gene on chromosome 15 and STRA8-I4-SV447 from the intron 4 of STRA8 gene on chromosome 18) between local pig breeds and European ones,the genotypes were detected by PCR method taking four pig breeds as samples,including Congjiang Xiang pig,Jiangkouluobo pig,Rongchang pig and Large White pig breeds.The functional elements in structural variations regions were analyzed using the online softwares of miRBase,UCSC and RegRNA 2.0.The results showed that an insertion of DNA fragment with 285 bp in length was confirmed in the structural variations of BOLL-I6-sv285,the dominant genotypes were DI and DD genotypes in three local pig breeds,and the frequency of allele I in the local pig breeds was higher than that in Large White pigs.Furthermore,Ⅱ genotype of BOLL-I6-sv285 was significantly related with higher litter size of Congjiang Xiang pig (P<0.05).For the structure variation STRA8-I4-SV447,it was an insertion mutation with 447 bp,and DD genotype was the dominant genotype in four pig groups,and the frequency of allele I in Congjiang Xiang pig,Jiangkouluobo pig and Large White pig were higher than that in Rongchang pig.The insertion types (Ⅱ) of STRA8-I4-SV447 was significantly related with lower litter size of Congjiang Xiang pig (P<0.05).This results suggested that BOLL-I6-sv285 and STRA8-I4-sv447 could be taken as candidate sites for the litter size choice in Congjiang Xiang pig population.