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Genetic ancestry and the search for personalized genetic histories

Nature Reviews Genetics volume 5, pages 611618 (2004) | Download Citation

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Abstract

Public demand and the development of large public and private databases of genetic information across human populations has encouraged the development of the new and rapidly growing field of genetic ancestry testing. Both the promise of the science that underlies this field and a lack of a full understanding of its limitations have fuelled the increased public interest in genetic ancestry testing.

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Acknowledgements

We thank D. T. Schulthess from Sorenson Genomics for providing information on several personalized genetic history companies and T. Fruidakis for access to data from DNAPrint Genomics, and three anonymous reviewers for constructive comments. M.D.S. and R.A.K. are supported by the National Institutes of Health and the Department of Defense.

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Affiliations

  1. Mark D. Shriver is at the Department of Anthropology, Penn State University, University Park, Pennsylvania 16802, USA.  mds17@psu.edu

    • Mark D. Shriver
  2. Rick A. Kittles is at the Department of Molecular Virology, Immunology and Medical Genetics, Ohio State University, Columbus, Ohio 43210, USA.  kittles-1@medctr.osu.edu

    • Rick A. Kittles

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Competing interests

M D Shriver is a scientific consultant for DNAPrint Genomics.

Glossary

ADMIXTURE MAPPING

(Mapping by admixture linkage disequilibrium). Mapping of genes for traits or diseases that have different genetic risks in two or more populations that have admixed recently to form a third hybrid population.

ADMIXTURE STRATIFICATION

Heterogeneity in a population that is composed of recent admixture of different ethnic groups that differ in marker allele frequencies.

ANCESTRY INFORMATIVE MARKERS

Genetic markers that show substantial differences in allele frequency across population groups.

BIOGEOGRAPHICAL ANCESTRY

The aspects of personalized genetic histories that can be computed using the ancestry information that is contained in ancestry informative markers.

CONTROL REGION

The section of mitochondrial DNA that does not code for any proteins. It consists of two segments (I and II) in which mutations are especially frequent.

EFFECTIVE POPULATION SIZE

The size of the ideal population in which the effects of random drift would be the same as observed in the actual population.

GENETIC DETERMINISM

The idea that genes determine and shape everything about a person.

HAPLOGROUP

(Also known as macrolineage). A group of haplotypes that share common ancestry defined by shared sequence.

HAPLOTYPE

A specific segment of DNA sequence that is inherited as a unit.

MACROHAPLOGROUPS

A group of haplogroups that are closely related and share a recent common ancestor.

ONE-DROP RULE

(Also known as the rule of hypodescent). A socially constructed classification system that was initiated during slavery in America that proclaimed that any person with any known African 'black' ancestry would have the same legal status as a 'pure' African.

PERSONAL INTEREST GENOMICS

The personal or recreational use of genetic ancestry information.

POPULATION STRATIFICATION

A population that contains subpopulations that differ in marker allele frequencies owing to nonrandom mating, finite population size and/or geographical barriers.

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DOI

https://doi.org/10.1038/nrg1405

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