제75차 대한이비인후과학회 학술대회 2001년 10월 12일 서울 센트랄시티

 Determination of all the human single nucleotide polymorphisms (SNPs) generates immense genetic information that provides a powerful means for genotype-phenotype association studies and for individual identification purposes. In the searches for disease-responsible genes, SNPs linked with disease mutations could help pinpoint those genes. On the other hand, SNPs themselves could be associated with drug responsiveness. The pharmacogenomics research would result in individually customized prescription of medicines and increase in the success rate of drug development. Thus, individual genotyping of normal people and patients is highly demanded and requires high-throughput automatic genotyping system. Using the MassARRAY system installed in KAIST that consists of homogeneous reactions of probe extension, MALDI-TOF mass spectrometry and SNP typing software, 92 Korean individuals were genotyped in a preliminary study for a set of SNPs spanning approximately 6 kb. The 8-SNP haplotypes of 126 chromosomes could be identified, and 102 chromosomes (81%) carried the same haplotype. The results indicate that although closely located SNPs can be very tightly linked, linkage disequilibrium is not simply inverse-correlated with distance between SNPs. The most distantly spaced SNPs are 100% linked, but the most closely spaced SNPs are much less linked. [Supported by a grant of Human Functional Genomics Research Program]