Linkage analysis for monogenic traits

Abstract

Linkage analysis, that is the observation of cosegregation of adjacent genetic markers or traits, is the principal means of constructing genetic maps, and locating genes that cause disease, or genetic traits. Although these methods have been partially supplanted by newer methods such as whole genome sequencing, linkage analysis still has considerable utility. The history of the method and the mathematical basis of linkage analysis are presented as well as specific applications to human genetics. Gene clusters consist of groups of adjacent genes that exist largely though mechanisms of gene duplication. In addition there exist clusters of genes that have related function, the best studied of which is the Major Histocompatibility Complex. The structure and evolutionary history of these clusters provides insight into the history of mammalian genomes.