Abstract
Linkage disequilibrium (LD), non-random association of alleles at closely linked chromosomal loci, has been used as a tool in the identification of disease alleles, and this has led to an improved understanding of pathology in many monogenic Mendelian human diseases. We are currently moving from the mapping and identification of monogenic disease loci to attempts at identifying loci involved in predisposition to multifactorial diseases. In the selection of ascertainment strategies in the studies of these complex diseases, the extent of background LD in different populations is an important consideration. Here, we compare the extent of LD among the alleles of linked loci in a randomly ascertained sample of individuals from the Finnish population and a set of individuals ascertained from the region of Kuusamo, a small sub-population, founded some 13 generations ago, which has experienced very little subsequent immigration. Thirty-three microsatellite loci were genotyped in chromosomal regions on 13q, 19q, 21q, Xq, and Xp. The genetic diversity of these loci was determined separately in the general Finnish sample and in the Kuusamo sample. The X-chromosomal loci are characterised by higher levels of LD in the samples from Kuusamo than in the much larger (and older) general population of Finland, whereas in alleles of autosomal loci very little LD was seen in either of these two samples.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Varilo, T., Laan, M., Hovatta, I. et al. Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo. Eur J Hum Genet 8, 604–612 (2000). https://doi.org/10.1038/sj.ejhg.5200482
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200482
Keywords
This article is cited by
-
Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset
Scientific Reports (2017)
-
A genome-wide screen for acrophobia susceptibility loci in a Finnish isolate
Scientific Reports (2016)
-
NordicDB: a Nordic pool and portal for genome-wide control data
European Journal of Human Genetics (2010)
-
Genetic markers and population history: Finland revisited
European Journal of Human Genetics (2009)
-
Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families
Molecular Psychiatry (2008)