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Updated: Jun 17, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Brief communication: mitochondrial haplotype C4c confirmed as a founding genome in the Americas
Ripan S Malhi1, Jerome S Cybulski, Raul Y Tito
1Department of Anthropology, Animal Biology and Institute for Genomic Biology, University of Illinois Urbana-Champaign, IL 61801, USA. malhi@uiuc.edu
Abstract:
Mitochondrial DNA analysis of 31 unrelated Shuswap speakers from a previously poorly sampled region of North America revealed two individuals with haplogroups rarely found in the Americas, C4c and C1d. Comparison of the complete genomes of the two individuals with others found in the literature confirms that C4c is a founding haplotype and gives insight into the evolution of the C1d haplotype. This study demonstrates the importance of collecting and analyzing data from Native North Americans when addressing hypotheses about the peopling of the Americas.
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