High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools.

ABSTRACT: To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated alleles. We examined primer extension analysis by matrix-assisted laser desorptionionization time-of-flight mass spectrometry to screen single-nucleotide polymorphisms (SNPs) for association by using DNA pools. We tested whether this method can accurately estimate allele frequency differences between pools while maintaining the high-throughput nature of assay design, sample handling, and scoring. We follow up interesting allele frequency differences in pools by genotyping individuals. We tested DNA pools of 182, 228, and 499 individuals using 16 SNPs with minor allele frequencies 0.026-0.486 and allele frequency differences 0.001-0.1

SUBMITTER: Mohlke KL 

PROVIDER: S-EPMC139246 | biostudies-literature | 2002 Dec

REPOSITORIES: biostudies-literature