中文摘要
本研究通过荧光原位杂交（FISH）将猪COL1A1基因染色体定位于SSC12p13-p11，RH图谱定位于猪12号染色体上，与标记SWR390紧密连锁；获得了猪COL1A1基因的全基因DNA序列和5mRNA部分序列，在COL1A1基因中共搜索到11个SNPs，全部位于内含子上。对其中位于第14、26和 49 号内含子的三个 SNP在杜洛克×二花脸资源家系和商业种猪群体中进行PCR-RFLP分型，病例对照分析和传递不平衡分析借果表明，14号内含子第451碱基处的A>G突变与猪阴囊疝发生呈关联，但在不同类型群体中其关联性不一致，而三个SNP的单倍型ACG的显著关联重复性更好。对资源家系进行全基因组扫描，NPL分析共发现11个脐疝易感位点和5个阴囊疝易感位点；TDT分析发现15个脐疝发生易感位点和6个阴囊疝易感位点。其中NPL和TDT方法同时检出的脐疝易感位点为7号染色体上的SWR1928和10染色体上的SW830，阴囊疝易感位点为8号染色体上的SW933。COL1A1基因的疝气关联研究将可通过进一步大规模群体验证用于阴囊疝分子标记辅助选择。疝气易感位点的鉴别将为进一步精细定位奠定基础。
英文摘要
COL1A1 gene has been mapped to SSC12p13-11 by FISH and position linked to SWR390 on SSC12 by RH mapping. COL1A1 gene has been sequenced by chromosome walking strategy.Partial mRNA sequence have been obtained by 5`RACE to comfirm the quality of DNA sequence. The total of 11 SNP have been idetified and 3 of them have been genotyped in Duroc × Erhualian resource population and commercial population including more than 3 pig pure breeds. Association analysis showed that the A>G mutation at No.451 bp of 14 intron of COL1A1 and haplotype ACG in these 3 SNP are significantly associated with susceptibility to scrotal hernia by case-control analysis and TDT. But the results did not repeat well in resource family and commercial pure breed population. To comfirm the difference of loci controlling hernia formation between different breeds, a genome-wide scan have beed carried in the resource population.The NPL analysis revealed 11 chromosomal regions for umbilical hernia and 5 regions for scrotal/inguinal hernia, whereas the TDT test identified 15 susceptibility loci for umbilical hernia and 6 for scrotal/inguinal hernias. The most promising loci were SWR1928 on SSC7 and SW830 on SSC10 for umbilical hernia, and SW933 on SSC8 for scrotal hernia, which were consistently detected by both NPL and TDT. Several previously r
结题摘要
本研究通过荧光原位杂交（FISH）将猪COL1A1基因染色体定位于SSC12p13-p11，RH图谱定位于猪12号染色体上，与标记SWR390紧密连锁；获得了猪COL1A1基因的全基因DNA序列和5mRNA部分序列，在COL1A1基因中共搜索到11个SNPs，全部位于内含子上。对其中位于第14、26和 49 号内含子的三个 SNP在杜洛克×二花脸资源家系和商业种猪群体中进行PCR-RFLP分型，病例对照分析和传递不平衡分析借果表明，14号内含子第451碱基处的A>G突变与猪阴囊疝发生呈关联，但在不同类型群体中其关联性不一致，而三个SNP的单倍型ACG的显著关联重复性更好。对资源家系进行全基因组扫描，NPL分析共发现11个脐疝易感位点和5个阴囊疝易感位点；TDT分析发现15个脐疝发生易感位点和6个阴囊疝易感位点。其中NPL和TDT方法同时检出的脐疝易感位点为7号染色体上的SWR1928和10染色体上的SW830，阴囊疝易感位点为8号染色体上的SW933。COL1A1基因的疝气关联研究将可通过进一步大规模群体验证用于阴囊疝分子标记辅助选择。疝气易感位点的鉴别将为进一步精细定位奠定基础。