Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
Abstract
Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fraction between a disease locus and a marker; (ii) the expected degree of allelic homogeneity in a population; and (iii) the mutation rate of marker loci. Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. Predictions about allelic homogeneity in Finland and mutation rates in simple sequence repeats are confirmed by independent observations.
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Hästbacka et al. mapped the locus associated with diastrophic dysplasia (DTD) in Finland.
“One of the first successful examples of LD mapping was by Hästbacka et al.128, who mapped the locus associated with diastrophic dysplasia (DTD) in Finland.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
In the Finnish population, a majority of DTD cases seemed to be caused by a dominant mutation that had been mapped by conventional methods to 5q31-5q34.
“In this population a majority of cases seemed to be caused by a dominant mutation that had been mapped by conventional methods to 5q31–5q34.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
On a sample of non-DTD chromosomes, the numbers of the four possible haplotypes (11, 12, 21, 22) were 4, 28, 7, and 84; on DTD chromosomes the numbers were 144, 1, 0, and 2.
“They found that on a sample of non-DTD chromosomes, the numbers of the four possible haplotypes (labelled 11, 12, 21 and 22) were 4, 28, 7, and 84, whereas on a sample of DTD chromosomes the numbers were 144, 1, 0, 2.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
LD had decayed little in the 2,000 years (roughly 100 generations) since the founding of the Finnish population.
“LD had decayed little in the 2,000 years (roughly 100 generations) since the founding of the Finnish population.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
Hästbacka et al. surveyed several restriction site polymorphisms in that region and found two that showed strong LD with DTD.
“Hästbacka et al. surveyed several restriction site polymorphisms in that region and found two that showed strong LD with DTD.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
The mutation causing DTD in Finland arose on a chromosome with haplotype 11.
“These data indicated that the mutation causing DTD in Finland arose on a chromosome with haplotype 11”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
Hästbacka et al. applied the Luria-Delbrück theory to approximate the history of the DTD mutation and concluded that the mutation was approximately 0.06 cM or 60 kb from these marker loci.
“Hästbacka et al. applied the Luria–Delbrück theory to approximate the history of the DTD mutation and concluded that the mutation was approximately 0.06 cM or 60 kb from these marker loci.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [128]
LD mapping proved useful in fine-mapping the founder Δ508 mutation in CFTR as a cause of cystic fibrosis and in screening the entire genome in isolated populations such as Finland.
“This method soon proved useful in fine-mapping the founder Δ508 mutation in the transmembrane conductance regulator CFTR as a cause of cystic fibrosis (40) and in screening the entire genome in isolated populations such as Finland (41).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [41]
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- Authors
- Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A., & Lander, E.
- Affiliations
- University of Helsinki (FI)
- Finnish Red Cross (FI)
- Whitehead Institute for Biomedical Research (US)
- Venue
- Nature Genetics
- Published
- 1992-11-01
- Volume
- 2
- Issue
- 3
- Pages
- 204-211
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2073917725
- Cited by
- 558
- References
- 35
- Citations by year
- 2026: 1 · 2025: 3 · 2023: 3 · 2022: 4 · 2021: 3 · 2020: 7 · 2019: 3 · 2018: 3 · 2017: 2 · 2016: 1 · 2015: 5 · 2014: 11 · 2013: 4 · 2012: 5
- FWCI
- 19.55
- Type
- journal article
- Language
- en
- Update notices
- correction (1992-12-01)
- Open access
- closed
- Locations
- Nature 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 › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- association mapping, founder populations, diastrophic dysplasia, Finnish population, mutation rate, microsatellite markers, recombination frequency, disease gene localization
- MeSH terms
- Base Sequence, Child, Chromosome Mapping, Chromosomes, Human, Pair 5, Female, Finland, Genetic Markers, Genetics, Population, Haplotypes, Humans, Male, Models, Genetic, Molecular Sequence Data, Mutation, Osteochondrodysplasias, Pedigree, Polymorphism, Genetic, Linkage Disequilibrium, Receptor, Macrophage Colony-Stimulating Factor
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