The DOI matches its Crossref record; 199 of the 199 references it cites were found in a registry or an index.
Genetics of population isolates
Abstract
Genetic isolates, as shown empirically by the Finnish, Old Order Amish, Hutterites, Sardinian and Jewish communities among others, represent a most important and powerful tool in genetically mapping inherited disorders. The main features associated with that genetic power are the existence of multigenerational pedigrees which are mostly descended from a small number of founders a short number of generations ago, environmental and phenotypic homogeneity, restricted geographical distribution, the presence of exhaustive and detailed records correlating individuals in very well ascertained pedigrees, and inbreeding as a norm. On the other hand, the presence of a multifounder effect or admixture among divergent populations in the founder time (e.g. the Finnish and the Paisa community from Colombia) will theoretically result in increased linkage disequilibrium among adjacent loci. The present review evaluates the historical context and features of some genetic isolates with emphasis on the basic population genetic concepts of inbreeding and genetic drift, and also the state‐of‐the‐art in mapping traits, both Mendelian and complex, on genetic isolates.
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“Although these individuals do not carry the PSEN1 E280A mutation, several population genetic analyses have shown that the community inhabiting this area has not been subject to microdifferentiation and shares the same genetic background and genealogy as the population with the E280A mutation.2, 3”
From APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease (2016) · cites this paper as [2]
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Inbreeding and runs of homozygosity: A possible solution to an old problem
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Self-citationThe importance of gene–environment interactions in human obesity
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The promise of discovering population-specific disease-associated genes in South Asia
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Metadata
- Authors
- Arcos‐Burgos, M., & Muenke, M.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Muenke, M
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2002-04
- Volume
- 61
- Issue
- 4
- Pages
- 233-247
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2148533501
- Cited by
- 271
- References
- 195
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 21 · 2023: 7 · 2022: 3 · 2021: 13 · 2020: 7 · 2019: 9 · 2018: 9 · 2017: 11 · 2016: 10 · 2015: 21 · 2014: 16 · 2013: 12 · 2012: 11
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- 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
- Keywords
- isolated populations, founder populations, inbreeding, genetic drift, linkage disequilibrium, founder effect, admixture, gene mapping, genetic disorders, Old Order Amish, Hutterites, Finnish population, Sardinian population, Jewish population, Mendelian traits, complex traits, pedigree
- MeSH terms
- Christianity, Colombia, Finland, Genetics, Population, Humans, United States, Genetic Diseases, Inborn
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