Use of isolated inbred human populations for identification of disease genes

Trends Genet. 1998 Oct;14(10):391-6. doi: 10.1016/s0168-9525(98)01556-x.


The genetic mapping of disease loci involves the use of patient phenotype and genotype data in the search for genetic markers that segregate, or are associated with, a trait or disorder. Genetically isolated populations offer many advantages for such studies. The high degree of inbreeding and/or founder effects in some small population isolates result in an increased incidence of recessive disorders. Monogenic disorders are less likely to show non-allelic heterogeneity in isolated populations than in more diverse populations. The use of isolated populations also reduces the complexity of polygenic disorders by reducing the number of loci probably involved in the disorder. Finally, a variety of strategies can be used with particular efficacy for the mapping of disease genes in isolated populations.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Consanguinity*
  • Genetic Diseases, Inborn*
  • Humans