Rarity of tagSNPs across transferred mtDNA inserts in human genome.
The study deals with the single nucleotide polymorphism (SNPs, HapMap data) around the mtDNA insertions in human genome. The results obtained from this study suggest that application of tagSNP approach for large scale genotyping targeting NUMT integration sites may be difficult due to lack of informative mutations around these loci. This warrants development of new approaches to tag mtDNA inserts in genome-wide association studies.
Eck Institute for Global Health, Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA. sbehura@nd.edu
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D024509:3' Flanking Region / Q000235:genetics; D024506:5' Flanking Region / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D015894:Genome, Human; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques / Q000379:methods*; D060148:HapMap Project; D006801:Humans; D015810:Linkage Disequilibrium; D016254:Mutagenesis, Insertional / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D004272:DNA, Mitochondrial