Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY 10032, USA.
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S28. doi: 10.1186/1471-2156-6-S1-S28.
There is currently a great interest in using single-nucleotide polymorphisms (SNPs) in genetic linkage and association studies because of the abundance of SNPs as well as the availability of high-throughput genotyping technologies. In this study, we compared the performance of whole-genome scans using SNPs with microsatellites on 143 pedigrees from the Collaborative Studies on Genetics of Alcoholism provided by Genetic Analysis Workshop 14. A total of 315 microsatellites and 10,081 SNPs from Affymetrix on 22 autosomal chromosomes were used in our analyses. We found that the results from the two scans had good overall concordance. One region on chromosome 2 and two regions on chromosome 7 showed significant linkage signals (i.e., NPL >or= 2) for alcoholism from both the SNP and microsatellite scans. The different results observed between the two scans may be explained by the difference observed in information content between the SNPs and the microsatellites.
目前，人们对使用单核苷酸多态性 (SNP) 进行遗传连锁和关联研究非常感兴趣，这是因为 SNP 数量丰富，并且高通量基因分型技术也已经普及。在这项研究中，我们比较了使用全基因组扫描 SNP 与微卫星标记在由遗传分析工作坊 14 提供的酒精中毒遗传学合作研究 143 个家系中的表现。我们的分析共使用了 22 条常染色体上来自 Affymetrix 的 315 个微卫星和 10081 个 SNP。我们发现，两种扫描的结果总体上具有良好的一致性。来自 SNP 和微卫星扫描的两个扫描都在染色体 2 上的一个区域和染色体 7 上的两个区域显示出显著的酒精中毒连锁信号（即 NPL >或= 2）。两种扫描之间观察到的不同结果可能可以用 SNP 和微卫星之间观察到的信息量差异来解释。
