An apportionment of human DNA diversity
Open accessAbstract
It is often taken for granted that the human species is divided in rather homogeneous groups or races, among which biological differences are large. Studies of allele frequencies do not support this view, but they have not been sufficient to rule it out either. We analyzed human molecular diversity at 109 DNA markers, namely 30 microsatellite loci and 79 polymorphic restriction sites (restriction fragment length polymorphism loci) in 16 populations of the world. By partitioning genetic variances at three hierarchical levels of population subdivision, we found that differences between members of the same population account for 84.4% of the total, which is in excellent agreement with estimates based on allele frequencies of classic, protein polymorphisms. Genetic variation remains high even within small population groups. On the average, microsatellite and restriction fragment length polymorphism loci yield identical estimates. Differences among continents represent roughly 1/10 of human molecular diversity, which does not suggest that the racial subdivision of our species reflects any major discontinuity in our genome.
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Genetic differences among populations, as measured by FST, are small in comparison with variation within populations.
“The genetic apportionment computation shows that genetic differences among populations, as measured by FST, are small in comparison with variation within populations [45–47].”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [46]
The Results and Discussion report that within-population differences account for about 84% of molecular variance, while differences among populations account for much less. The Materials and Methods describe analysis of molecular variance, not an FST calculation, so the comparison is supported but its attribution specifically to FST is not. (LLM, conf=0.86)
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- Authors
- Barbujani, G., Magagni, A., Minch, E., & Cavalli-Sforza, L. L.
- Affiliations
- University of Ferrara (IT)
- ORCID
- Barbujani, Guido
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1997-04-29
- Volume
- 94
- Issue
- 9
- Pages
- 4516-4519
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC20754
- OpenAlex
- W2052200503
- Cited by
- 498
- References
- 0
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 8 · 2023: 4 · 2022: 16 · 2021: 14 · 2020: 5 · 2019: 8 · 2018: 10 · 2017: 4 · 2016: 15 · 2015: 19 · 2014: 13 · 2013: 24 · 2012: 16
- FWCI
- 11.07
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- human genetic variation, population structure, racial classification, microsatellite markers, restriction fragment length polymorphism, allele frequency, genetic variance partitioning, human populations
- MeSH terms
- Analysis of Variance, Animals, Gene Frequency, Geography, Humans, Models, Biological, Polymorphism, Restriction Fragment Length, Hominidae, Statistics, Nonparametric, Microsatellite Repeats, Racial Groups
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