1. ¹Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
2. ²Department of Human Genetics, Roche Molecular Systems, Alameda, CA, USA
3. ³Children's Hospital Oakland Research Institute, Oakland, CA, USA

Correspondence: Professor U Gyllensten, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden. Tel: 46 708 993 413; Fax: 46 18 471 49 31; E-mail: ulf.gyllensten@genpat.uu.se

Received 3 August 2007; Revised 22 February 2008; Accepted 28 March 2008; Published online 14 May 2008.

Abstract

Sami of northern Scandinavia are genetic outliers among European populations and their origin has been difficult to determine. In order to study the genetic origin of the Swedish Sami, we have performed high-resolution typing of the class I HLA-A and -B loci and the class II DRB1, DQB1 and DQA1 loci in the northern and southern Swedish Sami. Several of the common class I alleles in Sami (B^*0702, B^*1501, B^*4002 and A^*0301) are found at high frequency in other European populations. However, a number of class I and class II alleles (B^*4001, A^*2402, DRB1^*0901 and DRB1^*1101) in the Swedish Sami are characteristic of Asian populations. Admixture analyses indicate that 87% of the Sami gene pool is of European origin and that the Asian contribution is 13%. Our HLA analyses indicate a higher proportion of Asian ancestry in the Sami than shown by previous genetic studies.