Discrimination of monozygotic twins using mtDNA heteroplasmy through probe capture enrichment and massively parallel sequencing

4^th International Conference on Forensic Science, Medicine, Research Technology

SEPTEMBER 19-20, 2024 | LONDON, UK

Atif Adnan

Naif Arab University for security Sciences, Riyadh, KSA

Keynote: J Sports Med Dop Stud

Abstract :

To differentiate between monozygotic (MZ) twins remains difficult because they have the same genetic makeup, here called monozygotic twins. Applying traditional STR genotyping approach they cannot be differentiated one from the other. Heteroplasmy refers to the presence of two or more different mtDNA copies within a single cell and this phenomenon is common in humans. The levels of heteroplasmy cannot only change dramatically during transmission in the female germ line but also increase or decrease during germ-line transmission and in somatic tissues during life. As massively parallel sequencing (MPS) technology has advanced, it has shown the extraordinary quantity of mtDNA heteroplasmy in humans. In this study, probe hybridization technique was used to obtain mtDNA and then MPS was performed with an average sequencing depth of above 4000. The results showed us that all the ten pairs of MZ twins were clearly differentiated with the minor heteroplasmy threshold at 1.0%, 0.5%, and 0.1%, respectively. Moreover, an increase in the heteroplasimic content with increasing age was also observed among the MZ twins. Finally, we used a probe that targeted mtDNA to boost sequencing depth without interfering with nuclear DNA and this technique can be used in the forensic genetics to differentiate the MZ twins.

Biography :

Atif Adnan hold a M.D., PhD. Degree in Forensic Medicine with Specialization in Forensic Genetics and Molecular Anthropology. Adnan has published more than 44 SCI papers including Forensic Sciences International Genetics, International Journal of Legal Medicine, Molecular Biology and Evolution