The DOI matches its Crossref record; 34 of the 35 references it cites were found in a registry or an index.
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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 citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
Citations
Cites
Molecular Cloning: A Laboratory Manual
Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589
Molecular cloning: A laboratory manual
Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Mutations of bacteria from virus sensitivity to virus resistance
Luria, S. E., & Delbrück, M. (1943) · Genetics · doi:10.1093/genetics/28.6.491 · Cited by 3,894
The Genetics of Human Populations.
Bulmer, M. G., Cavalli-Sforza, L. L., & Bodmer, W. F. (1972) · Journal of the Royal Statistical Society Series A (General) · doi:10.2307/2344702 · Cited by 1,672
Weir, B. S. (1990) · Cited by 1,401
The Genetics of Human Populations
J., A., Cavali-Sforza, L. L., & Bodmer, W. F. (1972) · Population · doi:10.2307/1529365 · Cited by 1,212
A genetic map of the mouse suitable for typing intraspecific crosses.
Dietrich, W., Katz, H., Lincoln, S. E., Shin, H., Friedman, J. M., Dracopoli, N. C., & Lander, E. S. (1992) · Genetics · doi:10.1093/genetics/131.2.423 · Cited by 1,080
Self-citationJeffreys, A. J., Royle, N. J., Wilson, V., & Wong, Z. Y. H. (1988) · Nature · doi:10.1038/332278a0 · Cited by 759
Variances and covariances of squared linkage disequilibria in finite populations
Hill, W. G., & Weir, B. S. (1988) · Theoretical Population Biology · doi:10.1016/0040-5809(88)90004-4 · Cited by 539
Research works printed but not linked: 4
- Gedde-Dahl, T. Genetisk epidemiologi i Norge. Finska läkaresällskapets handlingar 135, 199–213 (1992).
- Goodman, R.M. in Population structure and genetic disorders (eds A.W. Eriksson, H.R. Forsius, H.R. Nevanlinna, P.L. Workman & R.K. Norio) 337–351 (Academic Press, London, 1980).
- Klein, D. & Rabinowicz, T. in Population structure and genetic disorders (eds. A.W. Eriksson, H.R. Forsius, H. R. Nevanlinna, P. L Workman & R. K. Norio) 367–382 (Academic Press, London, 1980).
- Kirk, R.L. in Population structure and genetic disorders (eds. A. W. Eriksson, H.R. Forsius, H.R. Nevanlinna, P.L. Workman & R.K. Norio) 113–137 (Academic Press, London, 1980).
Cited by
Sorted by citations
Prediction of Total Genetic Value Using Genome-Wide Dense Marker Maps
Meuwissen, T. H. E., Hayes, B. J., & Goddard, M. E. (2001) · Genetics · doi:10.1093/genetics/157.4.1819 · Cited by 7,917
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Genetic Dissection of Complex Traits
Lander, E. S., & Schork, N. J. (1994) · Science · doi:10.1126/science.8091226 · Cited by 3,425
Self-citationScore Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous
Schaid, D. J., Rowland, C. M., Tines, D. E., Jacobson, R. M., & Poland, G. A. (2002) · The American Journal of Human Genetics · doi:10.1086/338688 · Cited by 1,777
Metadata
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
