Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen

摘要: Summary Genomic screening to map disease loci by association requires automation, pooling of DNA samples, and 3,000–6,000 highly polymorphic, evenly spaced micro-satellite markers. Case-control samples can be used in an initial screen, followed family-based data confirm marker associations. Association mapping is relevant genetic studies complex diseases which linkage analysis may less effective cases multi-generational are difficult obtain, including rare or late-onset conditions infectious diseases. The method also effectively follow up regions identified investigate candidate loci. Study designs incorporate heterogeneity interaction effects appropriate subdivision before screening. Here we report use pooled amplifications—the accurate determination marker-disease associations for both case-control nuclear family—based data—including application correction methods stutter artifact preferential amplification. These issues, combined with a discussion statistical power experimental design define the necessary requirements detecting while virtually eliminating false positives, suggest feasibility efficiency using