Genetic isolates correspond to subpopulations that have derived from a
reduced number of individuals originally belonging to a main parental population,
which have been submitted to isolation. Such subpopulations are widely acknowledged
as important resources for the elucidation of the genetic basis of diseases. Mendelian
diseases in particular have profited from gene finding strategies that use genetically
isolated populations. In view of the success obtained for monogenic disorders, the
scientific community was encouraged to use isolated populations with the purpose of
analyzing complex diseases. In this chapter, the characteristics of human genetic
isolates are addressed and the way by which they provide an advantage to gene finding
studies is discussed. The implications of genomics for the efforts of gene identification
using genetic isolates are also analyzed, and selected examples are provided. The
availability of genomic data for isolated populations is currently providing in-depth
insights into their structure, potentiating the use of research designs which are
particularly suited for each isolate, thus increasing the chances of success of gene
identification studies.
Keywords: Association studies, Complex diseases, Consanguinity, Endogamy,
Genetic homogeneity, Human genetic isolates, Linkage disequilibrium
Monogenic diseases, Non-extreme genetic isolates.
