title: A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA.
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.
authors.affiliation: Molecular Medicine, Department of Medical Sciences, Uppsala University, 75185 Uppsala, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Sigurdsson
authors.forename: M
authors.initials: M
authors.lastname: Hedman
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: A
authors.initials: A
authors.lastname: Sajantila
authors.forename: A-C
authors.initials: AC
authors.lastname: Syvänen
mesh_terms: D044466:Asian People; D044383:Black People; D004272:DNA, Mitochondrial / Q000235:genetics*; D005240:Feasibility Studies; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D021141:Nucleic Acid Amplification Techniques; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods* / Q000706:statistics & numerical data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044465:White People
chemical_list: D004272:DNA, Mitochondrial