DNA extracted from human skeletal remains is often of poor quality and/or low quantity. However, extracted DNA is often vital to determining the identity of an individual, particularly in forensic or missing persons cases.
During her poster presentation at ISHI 32, Haley Fallang will examine low quality DNA extracted from degraded, historic human remains recovered from a Maryland gravesite using mitochondrial next-generation sequencing (NGS) to learn about the family of the remains. The historic human remains were recovered in the 1970s from the Calverton site (ca. 1600s), located in Calvert County, Maryland.
Briefly describe your work/area of interest.
In this research, a bone sample obtained from one set of skeletal remains from the Calverton site was extracted prior to performing DNA quantitation and amplification. Initially, capillary electrophoresis (CE) was performed to produce an STR profile and examine the nuclear DNA extracted from the remains, which showed significant degradation. After the nuclear DNA was analyzed and separated using CE, the sample was submitted for NGS. Library preparation was performed using the ForenSeq mtDNA Control Region Kit, and the sample was sequenced using the MiSeq FGx.
Preliminary results have shown that NGS can be utilized to successfully analyze degraded mitochondrial DNA extracted from historic human remains, increasing the yield of data available for analysis when compared to CE data alone. Mitochondrial DNA sequencing of the degraded remains produced high-quality results, making haplogroup determination possible. The haplogroup is indicative of the individual’s ancestry and is used in kinship analyses.
Research Mentors/Professors on the project include Dr. Cynthia Zeller and Dr. Kelly Elkins, and Research Assistants/Graduate Students include Haley Fallang, Ashley True, Briel Hay, and Hannah Berry.
How did you get interested in this work? Why did this particular project appeal?
Dr. Cynthia Zeller and Dr. Kelly Elkins, professors at Towson University, recently developed a new laboratory, known as the Towson Human Remains Identification Laboratory (THRIL), which is dedicated to analyzing DNA from historic human remains (among other endeavors). I have been lucky enough to be mentored by Dr. Zeller and Dr. Elkins over the last year, which has allowed me to fully participate in research to improve genetic profiles of DNA extracted from highly degraded or historic human remains. Having had the opportunity to analyze samples using NGS techniques, identify bones with higher DNA yields, and work on new research involving whole genome amplification and genetic genealogy, I can certainly say that there is no other scientific research that I would rather be doing.
Can you summarize the impact of your work for the audience (ISHI attendees and some general forensic enthusiasts)? How might this advance the field?
Despite the degradation commonly observed in nuclear DNA extracted from historic or degraded human remains, the more resilient mitochondrial DNA can often be relied upon to provide relevant information and data that can assist in determining the identity of the remains. NGS has been found to accurately and efficiently examine mitochondrial DNA, even from old or degraded remains, meaning that the results of this research should offer immediate benefits for missing persons identification efforts and cold case investigations involving degraded remains. Because the maternally inherited mitochondrial DNA can be highly indicative of ancestry and kinship, it offers immense utility when attempting to identify an individual. As such, this research provides further insight into forensic genealogical techniques for human identification through maternal kinship analyses using mitochondrial DNA as well as ancestry estimation.
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