title: Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology.
abstract: Single nucleotide polymorphism (SNP) association studies searching for differences in allele frequencies between cases and controls have been widely used for genetic analysis. Individual genotyping is prohibitively expensive in large sample sizes. Pooling of samples provides the obvious advantage of higher throughput and lower cost. Here we report our results with the analysis of SNP allele frequencies in DNA pools using Pyrosequencing technology. For seven different SNPs, we observed a mean difference of 1.1 +/- 0.6% between allele frequencies determined in two different DNA pools (n = 150 cases and 150 controls) compared to individually genotyped samples.
authors.affiliation: Washington University School of Medicine, Division of Endocrinology, Diabetes, and Metabolism, St. Louis, MO 63110, USA. aplab3@im.wustl.edu
authors.forename: Jon
authors.initials: J
authors.lastname: Wasson
authors.forename: Gary
authors.initials: G
authors.lastname: Skolnick
authors.forename: Latisha
authors.initials: L
authors.lastname: Love-Gregory
authors.forename: M Alan
authors.initials: MA
authors.lastname: Permutt
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*