A Novel Method for Finding Genes Associated with Major Human Diseases


Charles R. Cantor, Sequenom, Inc., and Sequenom GmbH


Sequenom's genotyping technology uses an array of nano-liter samples to allow automated input and MS analysis.  Up to 3840 samples can be analyzed in a single run, in about one hour.  Genotypes are measured by using a primer extension reaction to convert DNA single nucleotide polymorphisms (SNPs)into length changes.  The development of new SNP assays is totally automated.  This allows whole genome SNP scans to be carried out at reasonable costs and in reasonable time frames. We are in the process of assaying all coding SNPs against several different population pools. Perhaps the most interesting of these are pools of healthy people stratified by age. Using these pools SNPs responsible for significant human morbidity or mortality can be discovered because their allele frequency will decrease as a function of age. A number of interesting genes with major health impact have already been discovered this way in a remarkably short time period.