Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2002 Jan 29

PMID 11813132

Citations 23

Authors

Henrik Kaessmann

Sebastian Zollner

Anna C Gustafsson

Victor Wiebe

Maris Laan

Joakim Lundeberg

Mathias Uhlen

Svante Paabo

Affiliations

Soon will be listed here.

Abstract

The extent of linkage disequilibrium (LD) was studied in two small food-gathering populations-Evenki and Saami-and two larger food-producing populations-Finns and Swedes-in northern Eurasia. In total, 50 single-nucleotide polymorphisms (SNPs) from five genes were genotyped using real-time pyrophosphate DNA sequencing, whereas 14 microsatellites were genotyped in two X-chromosomal regions. In addition, hypervariable region I of the mtDNA was sequenced to shed light on the demographic history of the populations. The SNP data, as well as the microsatellite data, reveal extensive levels of LD in Evenki and Saami when compared to Finns and Swedes. mtDNA-sequence variation is compatible with constant population size over time in Evenki and Saami but indicates population expansion in Finns and Swedes. Furthermore, the similarity between Finns and Swedes in SNP allele- and haplotype-frequency distributions indicate that these two populations may share a recent common origin. These findings suggest that populations such as the Evenki and the Saami, rather than the Finns, may be particularly suited for the initial coarse mapping of common complex diseases.

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