应用Hiseq 2000平台测定了香猪的全基因组序列,从中发现整合素结合涎蛋白(IBSP)基因内含子4中存在结构变异,命名为SV13,为了进一步探究SV13在猪群体中的分布,采用PCR技术检测了7个猪品种的SV13基因型。7个猪品种群体中均存在DD、DA和AA三种基因型,对纯合的DD和AA基因型测序,明确D等位基因缺失了227 bp。香猪、可乐猪和糯谷猪群体以DD为优势基因型,大白猪以AA基因型为主,6个地方猪品种群体中D的基因频率明显高于大白猪品种(P〈0.01),香猪和大白猪群体基因型频率处于Hardy-Weinberg不平衡状态(P〈0.05)。SV13可以作为辅助鉴别6个地方猪品种和大白猪的分子标记。
A structural variation, SV13, in the intron 4 of integrin-binding sialoprotein (IBSP) gene was deduced from the resequencing results based on platform Hiseq 2000. To confirm the structural variation of SV13, the genotypes of SV13 were detected by PCR method in seven pig breeds. DD, DA and AA genotypes were all detected from seven pig breeds. The deletion of D allele was 227 bp by sequencing DD and AA genotype, respectively. The dominant genotype was DD in Xiang, Kele and Nuogu pig breeds, but it was AA in the Yorkshire pig. The frequency of D allele was significantly higher in Xiang, Kele, Nuogu, Qianbeihei, Rongchang and Jiangkou Luobo pig breeds than that in the Yorkshire pig (P〈0.01 ). In addition, the genotype frequencies of Xiang and Yorkshire pigs were in Hardy-Weinberg imbalance (P〈 0. 05). It suggested that SV13 could be taken as a molecular marker to distinguish the six indigenous pig breeds from the Yorkshire pig.