Genomics Genetics Hunting for Genes SNPs Genetics is the study of inherited variation. Genetic studies in humans can identify genes that are related to disease. Hunting for Genes To find a gene that is a likely candidate for involvement in disease, scientists must search for DNA changes that are present only in people who have a particular disease. Searching randomly through three billion base pairs of DNA for tiny changes that may be linked to disease is difficult, time-consuming and expensive.
Luck plays an important part in any gene hunt.
Researchers studying large families with several cases of an inherited disease scan the genomes of family members for any changes in marker DNA sequences that correlate with the presence of disease. How long it takes to find a disease gene this way depends in large part on the particular markers chosen. Currently, researchers use chromosome maps for guidance. These maps specify thousands of unique DNA regions that act as mile markers along the chromosomal highways. These types of markers, which form a grid of known locations across every chromosome, are especially useful to researchers searching for small differences in DNA sequence among the members of large families.