International HapMap Project
|Graphic by NCBI|
BCM-HGSC and the International HapMap Project
BCM-HGSC is actively involved in the International HapMap Project.
This project is a partnership of scientists from around the world who are working to develop a distinctive map of the human genome that will help researchers find the genes associated with human diseases.
Common diseases, such as mental illness, epilepsy, diabetes, cancer, and heart disease, are affected by both DNA and environmental factors. Tiny variations in human DNA, called “single nucleotide polymorphisms” or SNPs, can influence how people differ in their risk for these diseases.
The HapMap project is developing a map of the common patterns of these DNA variations, in the hope that identifying them can lead to an understanding of the complex causes of disease in humans. This map will be a key resource for researchers to use when searching for genes that affect our health and our body’s responses to drugs and the environment.
As part of the International HapMap Project, BCM-HGSC is resequencing 2.5 million bases (Mb) of the “ENCODE” region of the human genome in order to identify novel SNPs. This 2.5 Mb target is actually five separate, equal-size segments located on chromosomes 7p15, 8q24, 9q34, 12q12, and 18q12. These five segments contain a number of candidate disease genes associated with hypertension, diabetes, and bone disorders.
For this project, we sequenced DNA samples from 48 individuals who are from four different regions of the world, including the United States, China, Japan, and Nigeria. All novel SNPs will be genotyped in 270 samples from these same four populations.