Linkage analysis is used to pinpoint the location of disease genes within the genome. Given genetic data from a family with a strong history of a disease, it is possible to trace the inheritance of the disease through the family, and thereby localize the genetic region (or locus) responsible for disease in that family. In practice, linkage analysis combines the biological rules of inheritance with statistical inference to identify a linked locus.

Linkage analysis is based on research conducted by Gregor Mendel in the 1860s. Mendel's second law of inheritance states that genetic loci are inherited independently of one another. This independent assortment occurs because genes are located on individual chromosomes, which are redistributed randomly every time an egg or sperm cell is produced. This is ...