Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.

摘要: The analysis of single nucleotide polymorphisms (SNPs) is increasingly utilizedto investigate the genetic causes complex human diseases. Here we present a high-throughput genotyping platform that uses one-primer assay to genotype over 10,000 SNPs per individual on oligonucleotide array. This approach restriction digestion fractionate genome, followed by amplification specific fractionated subset genome. resulting reduction in genome complexity enables allele-specific hybridization selection was primarily determined computer-predicted lengths fragments containing SNPs, andwas further driven strict empirical measurements accuracy, reproducibility, andaverage call rate, which estimate be >9.5%, >99.9%, and>95%, respectively. With average heterozygosity 0.38 andgenome scan resolution 0.31 cM, SNP array viable alternative panels microsatellites (STRs). As demonstration utility whole-genome scans, have replicated and refined linkage region chromosome 2p for chronic mucocutaneous candidiasis thyroid disease, previously identified using panel microsatellite (STR) markers.