Gold nanoparticles for high-throughput genotyping of long-range haplotypes

Completion of the Human Genome Project1 and the HapMap Project2 has led to increasing demands for mapping complex traits in humans to understand the aetiology of diseases3. Identifying variations in the DNA sequence, which affect how we develop disease and respond to pathogens and drugs, is important for this purpose, but it is difficult to identify these variations in large sample sets3,4,5. Here we show that through a combination of capillary sequencing and polymerase chain reaction assisted by gold nanoparticles, it is possible to identify several DNA variations that are associated with age-related macular degeneration6,7,8 and psoriasis9 on significant regions of human genomic DNA. Our method is accurate and promising for large-scale and high-throughput genetic analysis of susceptibility towards disease and drug resistance10,11,12.