Comparative analysis of the HV1 and HV2 regions of human mitochondrial DNA by denaturing high-performance liquid chromatography

Journal of Forensic Sciences
Richard KristinssonPhillip B Danielson

Abstract

Denaturing high-performance liquid chromatography (DHPLC) was evaluated as a sequencing-independent means of detecting the presence of sequence differences in pair-wise mixtures of nonconcordant amplicons of human mitochondrial DNA (mtDNA). A total of 920 pair-wise combinations of HV1 and HV2 mtDNA amplicons from 95 individuals were assayed by DHPLC for sequence concordance/nonconcordance. For the 72 combinations of amplicons from different individuals who shared identical DNA sequences, DHPLC assays consistently indicated sequence concordance between the samples. This was in 100% agreement with sequencing data. For the 849 combinations of amplicons which differed in sequence, DHPLC detected the presence of sequence nonconcordance in all but 13 assays to yield 98.5% concordance with sequencing. Thus, DHPLC can be used to detect a diversity of sequence differences (transitions, transversions, insertions, and deletions) in the mtDNA D-loop. Accordingly, DHPLC may have utility as a presumptive indicator of mtDNA sequence concordance samples, as a screen for heteroplasmy/situational mixtures, and as a means for the physical fractionation of the individual contributors to an mtDNA mixture prior to sequencing.

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Citations

Aug 7, 2010·PloS One·Linea MelchiorJørgen Dissing
Jun 16, 2011·Croatian Medical Journal·Mitchell M HollandKatherine A O'Hanlon
Aug 18, 2010·Human Cell·Romaica A Omaruddin, M Ahmad Chaudhry
May 3, 2011·Analytical Chemistry·T A BrettellJ R Almirall
Mar 6, 2012·Cellular Reprogramming·S Morteza HosseiniMohammad H Nasr-Esfahani
Jul 9, 2010·Journal of Intellectual Disability Research : JIDR·C SchuengelM Worm

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