Characterizing Native American mitochondrial DNA Haplogroups in Puerto Ricans by Next‐Generation Sequencing (NGS)

Abstract

Puerto Ricans are an admixed people with three different parental populations: European, African, and Native Americans. When Puerto Rico became a United States colony in 1898, the results of the census reported no trace of Native Americans (e.g. Taínos) on the island. Therefore, the percentage of Native American ancestry in Puerto Ricans has been questioned. Using mtDNA and restriction length polymorphism analysis (RFLP), my lab identified and quantified the frequency of four different Native American haplogroups (e.g A, B, C, and D). However, the genetic diversity within these haplogroups across the entire island needs further characterization. The experimental design consists of three phases: 1) genotype individuals using Real Time‐PCR, 2) library preparation for next‐generation sequencing, 3) mapping and sequencing of the mtDNA genome. Over 320 human saliva DNA samples have been screened. So far, 102 individuals have been identified for haplogroup A and 26 for haplogroup C. Further work will include the continuation of genotyping of individuals, and preparation of samples for sequencing and mapping of the mtDNA genome for the four haplogroups. This project will help discover the continental origins of the different lineages within each haplogroup and their time of arrival to the island.Support or Funding InformationResearch reported in this publication was supported by the National Institute of General Medical Sciences of the National Institute of Health under Award Number: T34GM008419This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.