Mitochondrial DNA Haplogroups Frequency Analysis among North Indian Population: A Resource for Establishing Maternal Relationships in Solid Organ Transplantation

Background: Mitochondrial DNA (mtDNA) typing, based on nucleotide sequencing of the control regions (known as hypervariable Regions I and II), is utilized in forensic investigations, human migration studies, and population genetics research. The objective of this study is to estimate mitochondrial haplogroup distribution and frequencies among the North Indian population using an appropriate statistical tool. Materials and Methods: In this study, a total of 230 samples were included and analyzed using polymerase chain reaction, gel detection, and Sanger sequencing methodologies from the region of North India. Results: A total of 63 distinct haplogroups were identified. Among these, haplogroup M was the most prevalent (38.26%), followed by haplogroup U (25.22%) and R (9.57%). The information obtained from this study will contribute to the development of a mtDNA database for the Indian population. Conclusion: This database could be valuable for forensic investigations, human migration studies, and population genetics research. It also suggests that mtDNA analysis would be useful for establishing maternal relationships in solid organ transplants, particularly in India.