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  Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms

Romualdi, C., Balding, D., Nasidze, I., Risch, G. M., Robichaux, M., Sherry, S. T., et al. (2002). Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms. Genome Research, 12(4), 602-612. doi:10.1101/gr.214902.

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Romualdi, C., Autor
Balding, D., Autor
Nasidze, Ivan1, Autor           
Risch, G. M., Autor
Robichaux, M., Autor
Sherry, Stephen T., Autor
Stoneking, Mark1, 2, Autor           
Batzer, Mark A., Autor
Barbujani, G., Autor
Affiliations:
1Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, ou_1497672              
2Human Population History, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, Deutscher Platz 6, 04103 Leipzig, DE, ou_2074313              

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 Zusammenfassung: Previous studies have reported that about 85% of human diversity at Short Tandem Repeat (STR) and Restriction Fragment Length Polymorphism (RFLP) autosomal loci is due to differences between individuals Of the same population, whereas differences among continental groups account for only 10% of the overall genetic variance. These findings conflict with popular notions of distinct and relatively homogeneous human races, and may also call into question the apparent usefulness of ethnic classification in, for example, medical diagnostics. Here, we present new data oil 21 Alu insertions in 32 populations. We analyze these data along with three other large, globally dispersed data sets consisting of apparently neutral biallelic nuclear markers, as well as with a P-globin data set possibly subject to selection. We confirm the previous results for the autosomal data, and find a higher diversity among continents for Y-chromosome loci. We also extend the analyses to address two questions: (1) whether differences between continental groups, although small, are nevertheless large enough to confidently assign individuals to their continent on the basis of their genotypes; (2) whether the observed genotypes naturally cluster into continental or population groups when the sample source location is Ignored. Using a range of statistical methods, we show that classification errors are at best around 30% for autosomal biallelic polymorphisms and 27% for the Y chromosome. Two data sets suggest the existence of three and four major groups of genotypes worldwide, respectively, and the two groupings are inconsistent. These results suggest that, at random biallelic loci, there is little evidence, if any, of a clear subdivision of humans into biologically defined groups.

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Sprache(n): eng - English
 Datum: 2002-04
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: eDoc: 21693
DOI: 10.1101/gr.214902
ISI: 000174971100009
 Art des Abschluß: -

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Titel: Genome Research
  Alternativer Titel : Genome Res.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 12 (4) Artikelnummer: - Start- / Endseite: 602 - 612 Identifikator: ISSN: 1088-9051