Surface Amplification of Invasive Cleavage Products

摘要

Genetic variations that change the properties of the organism in a discernible fashion provide essential clues to the function of the altered gene. Hence, a major focus of current efforts in genomics is to elucidate the genetic variations extant within the human population, and to study the effects of these variations upon the human system. The most common type of genetic variations are the single nucleotide polymorphisms (SNPs), which occur every 500-1000 nt in the genome. A critical issue in studies which seek to link such genetic variations to phenotypic variations is the scale upon which they must be performed. There are about 3 million SNPs within the human population. So far, around 1.8 million SNPs have been mapped and placed in a public database by the not-for-profit SNP Consortium. Large-scale population association studies to study the biological or medical significance of such variations may require the analysis of hundreds of thousands of SNPs on thousands of individuals. Thus, well-designed studies seeking to elucidate the genetic basis of common phenotypes such as heart disease, diabetes, or cancer would ideally be able to analyze billions of individual genetic differences.