中文摘要：

为了明确香猪（Sus scrofa）基因组的结构变化与繁殖调节机制之间的联系,采用二代测序技术对6头香猪进行了基因组重测序。结合数种生物信息学分析方法,从香猪高产组（XH）与低产组（XL）X染色体中检测到丰富的结构变异（structural variations,SV）。在香猪X染色体（chr X）上检测到3 246个SVs,进一步比较发现有311个SVs是XH组特有的,138个SVs只存在于XL组,合计449个SVs;XH组chr X染色体上61~109 Mb发现一个SV热点区域,XH组的热点区中有138个SVs,其中65个为缺失类型。449个SVs中,80个SVs位于基因内,影响了47个蛋白编码基因,31个基因位于繁殖相关的数量性状位点（quantitative trait locus,QTL）区域内,其中包括NLGN4X、GPR143、ZDHHC15、ATRX、NXF2、AMOT、GRIA3、THOC2等。对47个基因进行基因本体论（Gene Ontology,GO）和京都基因与基因组百科全书（Kyoto Encyclopedia of Genes and Genomes,KEGG）通路分析表明这些基因涉及繁殖、免疫及脂代谢相关的生物功能和通路,如肾上腺发育（adrenal gland development）、胞内类固醇激素受体信号调控通路（regulation of intracellular steroid hormone receptor signaling pathway）、RIG-I受体信号通路（RIG-I-like receptor signaling pathway）和脂蛋白代谢过程（lipoprotein metabolic process）。利用PCR方法对10/47个SVs进行群体验证,得出SV_GPR143在高低产群中存在差异（P〈0.05）,基因型DD的产仔数低于基因型NN的产仔数（n=1.96,P〈0.05）,与产仔数有一定的相关性（ρ=0.217）。本研究深入细致的SV分析表明XH组存在更为丰富的SVs,可为解析香猪产仔数变化的遗传机制提供理论依据。

英文摘要：

To gain a better understanding for the relationship between the genome structure and the reproduction mechanism of Xiang pig, the genome sequence of Xiang pig （Sus scrofa） was detected using next- generation sequencing method. Plenty of structural variations （SVs） were detected from chromosome X （chrX） of two Xiang pig groups with high （XH） or low （XL） litter size using several bioinformatics programs. There were 3 246 SVs being screened out from chrX of Xiang pig, in which 311 SVs were unique in XH group and 138 SVs in XL group with 449 SVs in total. It was notified that a SV hotspot locating at 61-109 Mb of chrX group was found out from samples of group XH. There were 138 SVs in the SV hotspot region, with 65 of them in deletion genotype. In addition, about 47 proteins might be disturbed by 80 of specific SVs in genes of Xiang pig. Out of 31 in the 47 genes contained QTL which was related with reproduction traits such as genes of NLGN4X, GPR143, ZDHHC 15, ATRX, NXF2, AMOT, GRIA3, THOC2. These genes were significantly enriched in the adrenal gland development, regulation of intracellular steroid hormone receptor signaling pathway, RIG-I-like receptor signaling pathway and lipoprotein metabolic process base on Gene Ontology （GO） and Kyoto Encyclopedia of Genes and Genomes （KEGG） analysis. 10/47 SVs in populations of Xiang pig were genotyped by PCR methods. The frequency of SV_GPR143 genotypes was significantly different between XH and XL groups （P~0.05）. And the SV GPR143 locus showed a correlation ship with the litter sizes （p=0.217） of Xiang pig with 1.96 piglets in DD genotype lower than that in NN genotype （P〈 0.05）. It indicated that much more amount of SVs presented in group XH and might contribute to the high reproduction trait of Xiang pig.