Columbia Genome Center, Columbia University, New York, NY, USA.
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S7. doi: 10.1186/1471-2156-6-S1-S7.
We performed linkage and linkage disequilibrium (LD) mapping analyses to compare the power between microsatellite and single nucleotide polymorphism (SNP) markers. Chromosome-wide analyses were performed for a quantitative electrophysiological phenotype, ttth1, on chromosome 7. Multipoint analysis of microsatellite markers using the variance component (VC) method showed the highest LOD score of 4.20 at 162 cM, near D7S509 (163.7 cM). Two-point analysis of SNPs using the VC method yielded the highest LOD score of 3.98 in the Illumina SNP data and 3.45 in the Affymetrix SNP data around 152-153 cM. In family-based single SNP and SNP haplotype LD analysis, we identified seven SNPs associated with ttth1. We searched for any potential candidate genes in the location of the seven SNPs. The SNPs rs1476640 and rs768055 are located in the FLJ40852 gene (a hypothetical protein), and SNP rs1859646 is located in the TAS2R5 gene (a taste receptor). The other four SNPs are not located in any known or annotated genes. We found the high density SNP scan to be superior to microsatellites because it is effective in downstream fine mapping due to a better defined linkage region. Our study proves the utility of high density SNP in genome-wide mapping studies.
我们进行了连锁和连锁不平衡 (LD) 作图分析,以比较微卫星和单核苷酸多态性 (SNP) 标记之间的功率。在第 7 号染色体上对定量电生理表型 ttth1 进行了全染色体分析。使用方差分量 (VC) 方法对微卫星标记进行多点分析显示,在 162cM 附近的 D7S509 附近,LOD 得分最高为 4.20。使用 VC 方法对 SNPs 的两点分析得出了 Illumina SNP 数据中最高的 LOD 得分 3.98 和 Affymetrix SNP 数据中最高的 LOD 得分 3.45,位于 152-153cM 左右。在基于家庭的单 SNP 和 SNP 单体型 LD 分析中,我们确定了与 ttth1 相关的七个 SNPs。我们在七个 SNP 的位置搜索任何潜在的候选基因。SNP rs1476640 和 rs768055 位于 FLJ40852 基因(一种假设蛋白)中,SNP rs1859646 位于 TAS2R5 基因(一种味觉受体)中。另外四个 SNP 不在任何已知或注释的基因中。我们发现高密度 SNP 扫描优于微卫星,因为由于定义更好的连锁区域,它在下游精细作图中更有效。我们的研究证明了高密度 SNP 在全基因组作图研究中的实用性。