Browsing by Subject "Mitochondrial DNA"
Now showing 1 - 2 of 2
- Results Per Page
- Sort Options
Item Evaluation of Molecular Techniques Using a Synthetic Mitochondrial Genome(2014-05-01) Koenig, Jessica L.; Rhonda RobyThe mitochondrion is responsible for the bulk of cellular energy production through the process of oxidative phosphorylation. The mitochondrial genome (mtGenome) is subject to a high mutation rate due to its proximity to reactive oxygen species produced in energy production. Over 250 pathogenic mutations have been characterized, and studies have demonstrated mtDNA variations at the cellular, tissue, and individual level. Some of the characterization techniques include long range PCR and sequencing. Sanger sequencing has been the gold standard, but next-generation sequencing technologies are now available. These methods may be evaluated using synthetic DNA of known base composition. This project utilizes the first synthetic mtGenome to optimize a LR PCR protocol and evaluate sequence quality using Sanger, MiSeq System, and Ion Personal Genome Machine System sequencing platforms.Item Variation in Mitochondrial DNA Heteroplasmy from Blood, Buccal, and Hair Samples(2020-05) Colon, Natalie S.; Budowle, Bruce; Gwirtz, Patricia A.; Cihlar, Jennifer C.Mitochondrial DNA (mtDNA) sequence variation has important forensic implications. This research assesses five subjects for variation in point heteroplasmy (PHP) using blood, buccal, and head hair from five scalp sites. Five hairs from each site (25 total hairs) were sequenced for mtDNA using the Ion Chef and S5 technologies. Three hairs were used to study PHP variation along the hair shaft. Variance in hair PHP was more similar to blood (R2 = 0.3411) than buccal (R2 = 0.3059). Given sufficient signal, PHP was detected in all subjects, but was not concordant within or across all scalp sites. Along hair shafts, PHP was present in one distal hair portion. Future research is needed to elucidate PHP's impact on hair sample interpretation.