A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA

S. Sigurdsson, M. Hedman, P. Sistonen, A. Sajantila, A. C. Syvänen

Research output: Contribution to journalArticlepeer-review

Abstract

We established a genotyping system for a panel of 150 SNPs in the coding regions of mitochondrial DNA based on multiplex tag-array minisequencing. We show the feasibility of this system for simultaneous identification of individuals and prediction of the geographical origin of the mitochondrial DNA population lineage of the sample donors by genotyping the panel of SNPs in 265 samples representing nine different populations from Africa, Europe, and Asia. Nearly 40,000 genotypes were produced in the study, with an overall genotyping success rate of 95% and accuracy close to 100%. The gene diversity value of the panel of 150 SNPs was 0.991, compared to 0.995 for sequencing 500 nucleotides of the hypervariable regions I and II of mtDNA. For 17 individuals with identical sequences in the hypervariable regions of mtDNA, our panel of SNPs increased the power of discrimination. We observed 144 haplotypes that correspond to previously determined mitochondrial "haplogroups," and they allowed prediction of the origin of the maternal population lineage of 97% of the analyzed samples.

Original languageEnglish
Pages (from-to)534-542
Number of pages9
JournalGenomics
Volume87
Issue number4
DOIs
Publication statusPublished - Apr 2006

Bibliographical note

Funding Information: We thank Raul Figureoa for producing the tag microarrays. Financial support for the study was provided by the Swedish Research Council for Science and Technology (VR-NT) and by the Knut and Alice Wallenberg Foundation (WCN). Minttu Hedman was funded during this study by a stipend from the Nordic Research Board (Norfa).

Other keywords

  • Forensic identification
  • Genotyping
  • Microarrays
  • Minisequencing
  • Mitochondrial SNPs
  • Mitochondrial haplotypes
  • Population genetics

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