Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry.

摘要: One of the major challenges in near future is identification genes that contribute to complex disorders. Large scale association studies utilize a dense map single nucleotide polymorphisms (SNPs) have been considered as valuable tool for this purpose. However, genome-wide screens are limited by costs genotyping thousands SNPs large number individuals. Here we present pooling strategy enables high-throughput SNP validation and determination allele frequencies case control populations. Quantitative analysis DNA pools based on matrix-assisted laser desorption/ionization time flight (MALDI-TOF) mass spectrometry primer extension assays. We demonstrate accuracy reliability approach eight previously genotyped individuals with an frequency representation range 0.1 0.9. The measured was shown 142 186 using additional markers. Allele determined from pooled samples deviate real about 3%. described method reduces up taking advantage MALDI-TOF technology.