HapMap

The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States.

Background

The DNA sequence of any two people is 99.9 percent identical. The variations, however, may greatly affect an individual's disease risk. Sites in the DNA sequence where individuals differ at a single DNA base are called Single Nucleotide Polymorphisms (SNPs). Sets of nearby SNPs on the same chromosome are inherited in blocks. This pattern of SNPs on a block is a haplotype. Blocks may contain a large number of SNPs, but a few SNPs are enough to uniquely identify the haplotypes in a block. The HapMap is a map of these haplotype blocks and the specific SNPs that identify the haplotypes are called tag SNPs.

The HapMap should be valuable by reducing the number of SNPs required to examine the entire genome for association with a phenotype from the 10 million SNPs that exist to roughly 500,000 tag SNPs. This will make genome scan approaches to finding regions with genes that affect diseases much more efficient and comprehensive, since effort will not be wasted typing more SNPs than necessary and all regions of the genome can be included.

Resources

» About the International HapMap Project (NHGRI)

» About HapMap Project in PubMed

» About haplotypes in PubMed