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.
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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
Flagged first, then by citations
1 of the 35 references couldn’t be matched to a known paper.
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).
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Thumma, B. R., Nolan, M. F., Evans, R., & Moran, G. F. (2005) · Genetics · doi:10.1534/genetics.105.042028 · Cited by 236
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Schug, M. D., Mackay, T. F. C., & Aquadro, C. F. (1997) · Nature Genetics · doi:10.1038/ng0197-99 · Cited by 236
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Smith, B. N., Newhouse, S., Shatunov, A., Vance, C. A., Topp, S. D., Johnson, L., Miller, J. W., Lee, Y., Troakes, C., Scott, K. M., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.98 · Cited by 228
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Stephens, J. C., Briscoe, D. A., & O’Brien, S. J. (1994) · PubMed Central · Cited by 223
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Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., & Asher, J. H. (1995) · Nature Genetics · doi:10.1038/ng0195-86 · Cited by 222
Allen, P. J., Amos, W., Pomeroy, P. P., & Twiss, S. D. (1995) · Molecular Ecology · doi:10.1111/j.1365-294x.1995.tb00266.x · Cited by 220
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Barcellos, L. F., Klitz, W., Field, L. L., Tobias, R., Bowcock, A. M., Wilson, R., Nelson, M. P., Nagatomi, J. Y., & Thomson, G. (1997) · The American Journal of Human Genetics · doi:10.1086/515512 · Cited by 215
Hamida, C. B., Doerflinger, N., Belal, S., Linder, C. Y., Reutenauer, L., Dib, C., Gyapay, G., Alain Vignal, A., Paslier, D. L., Cohen, D., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-195 · Cited by 211
Norio, R. (2003) · Human Genetics · doi:10.1007/s00439-002-0875-3 · Cited by 208
Maximum-likelihood estimation of gene location by linkage disequilibrium.
Hill, W. G., & Weir, B. S. (1994) · PubMed Central · Cited by 205
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Scriver, C. R. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.69 · Cited by 211
Goddard, K. A. B., Hopkins, P. J., Hall, J., & Witte, J. S. (2000) · The American Journal of Human Genetics · doi:10.1086/302727 · Cited by 206
Copeman, J. B., Cucca, F., Hearne, C. M., Cornall, R. J., Reed, P., Rønningen, K. S., Undlien, D. E., Nisticò, L., Buzzetti, R., TOSI, R. M., et al. (1995) · Nature Genetics · doi:10.1038/ng0195-80 · Cited by 206
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Lefèvre, C., Bouadjar, B., Ferrand, V., Tadini, G., Mégarbané, A., Lathrop, M. G., Prud’homme, J.-F., & Fischer, J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi491 · Cited by 201
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Laan, M., & Pääbo, S. (1997) · Nature Genetics · doi:10.1038/ng1297-435 · Cited by 199
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Huttley, G. A., Smith, M. W., Carrington, M. N., & O’Brien, S. J. (1999) · Genetics · doi:10.1093/genetics/152.4.1711 · Cited by 193
Rossi, A., & Superti‐Furga, A. (2001) · Human Mutation · doi:10.1002/humu.1 · Cited by 190
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D, H. O. M. (2001) · Nature Reviews Genetics · doi:10.1038/35098506 · Cited by 187
The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis
Maniatis, N., Collins, A. R., Xu, C., McCarthy, L. C., Hewett, D. R., Tapper, W., Ennis, S., Ke, X., & Morton, N. E. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.042680999 · Cited by 183
Genetic determinants of human hypertension.
Lifton, R. P. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.19.8545 · Cited by 177
25 Linkage disequilibrium mapping: The role of population history, size, and structure
Chapman, N. H., & Thompson, E. A. (2001) · Advances in genetics · doi:10.1016/s0065-2660(01)42034-7 · Cited by 182
Meulenbelt, I., Droog, S., Trommelen, G. J. J. M., Boomsma, D. I., & Slagboom, P. E. (1995) · Europe PMC (PubMed Central) · Cited by 176
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O'Reilly, P. T., & WRIGHT, J. M. (1995) · Journal of Fish Biology · doi:10.1111/j.1095-8649.1995.tb06042.x · Cited by 175
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Morar, B., Gresham, D., Angelicheva, D., Tournev, I., Gooding, R., Guergueltcheva, V., Schmidt, C., Abicht, A., Lochmüller, H., Tordai, A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/424759 · Cited by 171
Meuwissen, T. H. E., & Goddard, M. E. (2004) · Genetics Selection Evolution · doi:10.1186/1297-9686-36-3-261 · Cited by 158
Carrasquillo, M. M., Zlotogora, J., Barges, S., & Chakravarti, A. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.12.2163 · Cited by 163
Riquet, J., Coppieters, W. R., Cambisano, N., Arranz, J. J., Berzi, P., Davis, S. K., Grisart, B., Farnir, F., Karim, L., Mni, M., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.16.9252 · Cited by 159
Freimer, N. B., & Sabatti, C. (2004) · Nature Genetics · doi:10.1038/ng1433 · Cited by 152
Pajukanta, P., Terwilliger, J. D., Perola, M., Hiekkalinna, T., Nuotio, I. O., Ellonen, P., Parkkonen, M., Hartiala, J., Ylitalo, K., Pihlajamäki, J., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302365 · Cited by 155
Fine-Scale Genetic Mapping Based on Linkage Disequilibrium: Theory and Applications
Xiong, M., & Guo, S. (1997) · The American Journal of Human Genetics · doi:10.1086/515475 · Cited by 153
Microsatellite diversity predicts recruitment of sibling great reed warblers
Hansson, B., Bensch, S., Hasselquist, D., & Åkesson, M. (2001) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2001.1640 · Cited by 152
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Liu, J. S., Sabatti, C., Teng, J., Keats, B. J. B., & RISCH, N. J. (2001) · Genome Research · doi:10.1101/gr.194801 · Cited by 139
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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
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