Cited by 275Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic diversity and population structure

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Genetics of population isolates

Arcos‐Burgos, M, Muenke, M·2002·Clinical Genetics

DOI 10.1034/j.1399-0004.2002.610401.x

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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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Crossref · 10.1034/j.1399-0004.2002.610401.x

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Additional file 2 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644177
Additional file 1 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
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Additional file 9 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644198
Additional file 11 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644207
Additional file 4 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644183
Additional file 1 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644174
Additional file 5 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644186
Additional file 8 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644195
Additional file 5 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
Freitas, F. A. O., Brito, L. F., Fanalli, S. L., Gonçales, J. L., da Silva, B. P. M., Durval, M. C., Ciconello, F. N., de Oliveira, C. S., Nascimento, L. E., Gervásio, I. C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26658430
Additional file 6 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
Freitas, F. A. O., Brito, L. F., Fanalli, S. L., Gonçales, J. L., da Silva, B. P. M., Durval, M. C., Ciconello, F. N., de Oliveira, C. S., Nascimento, L. E., Gervásio, I. C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26658433
Additional file 7 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644192
Additional file 6 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644189
Additional file 4 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
Freitas, F. A. O., Brito, L. F., Fanalli, S. L., Gonçales, J. L., da Silva, B. P. M., Durval, M. C., Ciconello, F. N., de Oliveira, C. S., Nascimento, L. E., Gervásio, I. C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26658427
Additional file 10 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644201
Additional file 3 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
Freitas, F. A. O., Brito, L. F., Fanalli, S. L., Gonçales, J. L., da Silva, B. P. M., Durval, M. C., Ciconello, F. N., de Oliveira, C. S., Nascimento, L. E., Gervásio, I. C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26658424
Additional file 2 of Identification of eQTLs using different sets of single nucleotide polymorphisms associated with carcass and body composition traits in pigs
Freitas, F. A. O., Brito, L. F., Fanalli, S. L., Gonçales, J. L., da Silva, B. P. M., Durval, M. C., Ciconello, F. N., de Oliveira, C. S., Nascimento, L. E., Gervásio, I. C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.24934577
Additional file 3 of SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands
Gislason, H. (2024) · Figshare · doi:10.6084/m9.figshare.26644180
DeMoDa: A global open access database for comparative research in human dental morphological variationPreprint
de Pinillos, M. M., Fernández, A. Á., Estéban, B. D., Delgado, M., Dern, L. L., Irish, J. D., Kondo, O., Martinón‐Torres, M., Modesto‐Mata, M., Scott, P. G. R., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.30.728952
The Paisa Kids Study: Rationale, Methods, and Initial Characterization of a Youth Cohort at Transdiagnostic High Risk for Serious Mental IllnessPreprint
Forsyth, J. K., Echeverry, J. V., Bearden, C. E., Freimer, N. B., Loohuis, L. M. O., Karalis, J. J., Reus, V. I., Escobar, J. I., Lopez-Jaramillo, C. A., & Palacio-Ortíz, J. D. (2026) · medRxiv · doi:10.64898/2026.10.05.26364818

Authors: Arcos‐Burgos, M., & Muenke, M.
Affiliations: National Institutes of Health (US)
Corresponding author: Muenke, M
ORCID: Arcos‐Burgos, M
Muenke, M
Venue: Clinical Genetics
Publisher: Wiley
Published: 2002-04
Volume: 61
Issue: 4
Pages: 233-247
ISSN: 0009-9163 (ISSN-L)
1399-0004
DOI: 10.1034/j.1399-0004.2002.610401.x
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 56 d)
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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