Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

Int J Legal Med. 2004 Jun;118(3):137-46. doi: 10.1007/s00414-004-0427-6. Epub 2004 Feb 4.


We have sequenced the entire mtDNA genome (mtGenome) of 241 individuals who match 1 of 18 common European Caucasian HV1/HV2 types, to identify sites that permit additional forensic discrimination. We found that over the entire mtGenome even individuals with the same HV1/HV2 type rarely match. Restricting attention to sites that are neutral with respect to phenotypic expression, we have selected eight panels of single nucleotide polymorphism (SNP) sites that are useful for additional discrimination. These panels were selected to be suitable for multiplex SNP typing assays, with 7-11 sites per panel. The panels are specific for one or more of the common HV1/HV2 types (or closely related types), permitting a directed approach that conserves limiting case specimen extracts while providing a maximal chance for additional discrimination. Discrimination provided by the panels reduces the frequency of the most common type in the European Caucasian population from approximately 7% to approximately 2%, and the 18 common types we analyzed are resolved to 105 different types, 55 of which are seen only once.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Forensic Medicine / methods*
  • Gene Frequency
  • Genetics, Population
  • Genome, Human*
  • Humans
  • Polymorphism, Single Nucleotide*
  • White People*


  • DNA, Mitochondrial