mtDNA and Y-chromosome haplogroups

The Genographic project
National Geographic

Genetic ancestry and the search for personalized genetic histories
Nature Reviews Genetics 5, 611-618 (August 2004)

Phylogenetic methods are routinely used to identify human mitochondrial DNA (mtDNA) and Y-chromosome haplogroups and the informative genetic markers that define them. Most personalized genetic history (PGH) tests for maternal ancestry involve sequencing approximately 400 bp of hypervariable segment I of the mitochondrial DNA CONTROL REGION and confirming the haplogroup through diagnostic SNP typing. mtDNA haplogroups are continent-specific, with little mixing of mtDNA haplogroups from different continents.



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