Mitochondrial DNA (mtDNA)

Typically, mtDNA is used to type samples such as teeth, bones, and hair that are normally intractable to standard STR (Short Tandem Repeats) analysis. The hypervariable control region of mtDNA used for typing contains a large number of linked SNPs (Single Nucleotide Polymorphisms) that are simultaneously determined by standard Sanger sequencing.

The coding region also possesses SNPs that can be useful in differentiating between samples that otherwise exhibit the most common Caucasian control region mtDNA haplotype. These coding region SNPs are less dense than in the control region and are typically typed using minisequencing/primer extension methods.

Physical Characteristics

Ethno-geographic ancestry can be predicted using a set of approximately 70 autosomal SNP markers.⁰⁴ These ancestry informative markers (AIMs) use proprietary algorithms to partition an individual's AIM-SNP profile into sub-Saharan African, Caucasian, East Asian, and Native American components.⁰⁴   Y-chromosome SNPs and Alu insertion polymorphisms (that are de facto biallelic UEP markers and can be analyzed by SNP methods) are also promising candidate markers for bio-geographic ancestry prediction.^05,06

Eye color, contrary to popular genetics textbook explanations, is a complex trait determined by a number of interacting genes.⁰⁷ The analysis of SNPs from these interacting genes or regions in close linkage with them can predict the eye color of a DNA donor.⁰⁷

Degraded DNA

Identification of human remains from the World Trade Center disaster was aided by using a panel of approximately 70 autosomal SNPs whose amplimer lengths were greater than 100 bp and therefore suitable for degraded DNA specimens.⁰⁸

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