Thousands of people are reported missing each year, and while some cases are resolved quickly, many remain a mystery. The International Commission of Missing Persons (ICMP) and the U.S. National Missing and Unidentified Persons System (NamUs) are repositories of information to assist law enforcement and families in their investigations. Taking a more global approach to the problem, INTERPOL led the 2010 creation of The Fast and Efficient International Disaster Victim Identification (FASTID) project to create a Global Missing Persons and Unidentified Bodies (MPUB) database. These organizations maintain data bank of mitochondrial DNA (mtDNA) data received from Coroners and Medical Examiners (MEs), and reference data obtained from family members. mtDNA sequencing is particularly useful for challenging samples, such as the hair, teeth, bone fragments, and buried remains typically associated with these cases. mtDNA typing offers a better chance of obtaining a result because there are several hundred to thousands of mtDNA molecules in a cell, compared to only two copies of autosomal markers.
mtDNA analysis using Sanger sequencing enables Coroner and Medical Examiner laboratories to extract genetic data from small forensic samples found in less than ideal condition. Illumina sequencing by synthesis (SBS) technology has the potential to transform this process, with the MiSeq capable of indexing 96 samples in one sequencing run. Its simple one-step workflow could quickly deliver results to speed investigations. Illumina sequencing technology also provides deep coverage of areas of interest, recently enabling research scientists to analyze human samples hundreds and thousands of years old, unlocking the secrets they contain about long vanished individuals.
There are thousands of copies of mtDNA in every cell of the human body, but the copies found in different tissues may not be exactly the same. Referred to as heteroplasmy, these mitochondrial mutations occur as we age, making it difficult to confirm sample associations needed for identification. Sanger sequencing using capillary electrophoresis can accurately detect heteroplasmy with minor allele frequencies (MAFs) of >10-20%. In contrast, the deeper reads of Illumina sequencing by synthesis (SBS) technology enable the accurate detection of heteroplasmy with MAFs > 1%. This not only benefits clearer heteroplasmy analysis, but enables greater resolution of mixture samples.
MiSeq system aids in identification of skeletal remains by sequencing mtDNA hypervariable regions.
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Prepare, sequence and analyze the human mtDNA D-loop hypervariable region.
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Prepare, sequence and analyze the human mtDNA genome.
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