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References (62)
-
N. Takahata (1990)
A simple genealogical structure of strongly balanced allelic lines and trans-species evolution of polymorphism.Proceedings of the National Academy of Sciences of the United States of America, 87 7
-
(1999)
Estimat - ing the age of mutations using variation at linked markers -
R. Ajioka, L. Jorde, Jeffrey Gruen, Ping Yu, Diana Dimitrova, Jalene Barrow, E. Radisky, Corwin Edwards, L. Griffen, James Kushner (1997)
Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.American journal of human genetics, 60 6
-
M. Slatkin, R. Hudson (1991)
Pairwise comparisons of mitochondrial DNA sequences in stable and exponentially growing populations.Genetics, 129 2
-
C. Zühlke, U. Gehlken, S. Purmann, M. Kunisch, B. Müller-Myhsok, F. Kreuz, F. Laccone (1999)
Linkage Disequilibrium and Haplotype Analysis in German Friedreich Ataxia FamiliesHuman Heredity, 49
-
Carsten Wiuf, P. Donnelly (1999)
Conditional genealogies and the age of a neutral mutant.Theoretical population biology, 56 2
-
E. Thompson (1976)
Estimation of age and rate of increase of rare variants.American journal of human genetics, 28 5
-
J. Shoemaker, I. Painter, B. Weir (1999)
Bayesian statistics in genetics: a guide for the uninitiated.Trends in genetics : TIG, 15 9
-
F. Piccolo, M. Jeanpierre, F. Leturcq, Catherine Dodé, K. Azibi, A. Toutain, Luciano Merlini, L. Jarre, Carmen Navarro, Rajagopal Krishnamoorthy, Fernando Tomé, J. Urtizberea, Jacques Beckmann, Kevin Campbell, J. Kaplan (1996)
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.Human molecular genetics, 5 12
-
W. Hill (1972)
Effective size of populations with overlapping generations.Theoretical population biology, 3 3
-
Luigi Cavalli-sfroza (1994)
The History and Geography of Human Genes -
M. Montfort, G. Pastores, A. Chabás, L. Vilageliu, D. Grinberg
Gaucher Disease : The N 370 S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago -
Wenhao Li (1975)
The first arrival time and mean age of a deleterious mutant gene in a finite population.American journal of human genetics, 27 3
-
J. Hästbacka, A. Chapelle, I. Kaitila, P. Sistonen, Alix Weaver, E. Lander (1992)
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in FinlandNature Genetics, 2
-
S. Neuhausen, A. Godwin, R. Gershoni-baruch, E. Schubert, J. Garber, D. Stoppa-Lyonnet, E. Oláh, B. Csókay, O. Serova, F. Lalloo, A. Osorio, M. Stratton, K. Offit, J. Boyd, M. Caligo, R. Scott, A. Schofield, E. Teugels, M. Schwab, L. Cannon-Albright, T. Bishop, D. Easton, J. Benítez, M. King, B. Ponder, B. Weber, P. Devilee, Å. Borg, S. Narod, D. Goldgar (1998)
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.American journal of human genetics, 62 6
-
Giorgio Bertorelle, B. Rannala (1998)
Using rare mutations to estimate population divergence times: a maximum likelihood approach.Proceedings of the National Academy of Sciences of the United States of America, 95 26
-
G. Watterson, H. Guess (1977)
Is the most frequent allele the oldest?Theoretical population biology, 11 2
-
R. Fisher (1990)
On the dominance ratioBulletin of Mathematical Biology, 52
-
R. Bar-Sade, A. Kruglikova, B. Modan, E. Gak, G. Hirsh-Yechezkel, L. Theodor, I. Novikov, R. Gershoni-baruch, S. Risel, M. Papa, G. Ben-Baruch, E. Friedman (1998)
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.Human molecular genetics, 7 5
-
L. Susan, Neuhausen, S. Mazoyer, Lori, Friedman, Michael Stratton, K. Offit, A. Caligo, G. Tomlinson, L. Cannon-Albright, T. Bishop, David, Kelsell, E. Solomon, Barbara Weber, F. Couch, Jeffery, Struewing, Patrícia, Tonin, F. Durocher, S. Narod, H. Mark, Skolnick, Gilbert, Lenoir, O. Serova, B. Ponder, D. Stoppa-Lyonnet, D. Easton, M. King, D. Goldgar (1996)
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.American journal of human genetics, 58 2
-
N. Morral, J. Bertranpetit, X. Estivill, V. Nunes, T. Casals, J. Giménez, A. Reis, R. Varon‐Mateeva, M. Macek, L. Kalaydjieva (1994)
The origin of the major cystic fibrosis mutation (delta F508) in European populations.Nature genetics, 7 2
-
E. Lander, D. Botstein (1986)
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map.Cold Spring Harbor symposia on quantitative biology, 51 Pt 1
-
Lionel Forestier, Geneviève Jean, Marlene Attard, S. Cherqui, Cathryn Lewis, William Hoff, M. Broyer, Margaret Town, Corinne Antignac (1999)
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.American journal of human genetics, 65 2
-
T. Varilo, M. Savukoski, R. Norio, P. Santavuori, L. Peltonen, I. Järvelä (1996)
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.American journal of human genetics, 58 3
-
Watterson (1976)
Reversibility and the age of an allele. I. Moran's infinitely many neutral alleles model.Theoretical population biology, 10 3
-
R. Fisher
XXI.—On the Dominance Ratio, 42
-
M. Dean, M. Carrington, Christoph Winkler, G. Huttley, M. Smith, R. Allikmets, J. Goedert, S. Buchbinder, E. Vittinghoff, E. Gomperts, S. Donfield, D. Vlahov, R. Kaslow, A. Saah, C. Rinaldo, R. Detels, S. O’Brien (1996)
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural GeneScience, 273
-
N. Kaplan, P. Lewis, B. Weir (1994)
Age of the ΔF508 cystic fibrosis mutationNature Genetics, 8
-
B. Kerem, J. Rommens, J. Buchanan, D. Markiewicz, T. Cox, A. Chakravarti, M. Buchwald, L. Tsui (1989)
Identification of the cystic fibrosis gene: genetic analysis.Science, 245 4922
-
J. Weber, Carmen Wong (1993)
Mutation of human short tandem repeats.Human molecular genetics, 2 8
-
R. Griffiths, S. Tavaré (1998)
The age of a mutation in a general coalescent treeStochastic Models, 14
-
A. Moisio, P. Sistonen, J. Weissenbach, Alberto la, Chapelle (1996)
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.American journal of human genetics, 59 6
-
Visit the Annual Reviews home page at www.AnnualReviews.org LITERATURE CITED -
R. Nielsen, D. Weinreich (1999)
The age of nonsynonymous and synonymous mutations in animal mtDNA and implications for the mildly deleterious theory.Genetics, 153 1
-
N. Risch, D. Leon, L. Ozelius, P. Kramer, L. Almasy, B. Singer, S. Fahn, X. Breakefield, S. Bressman (1995)
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder populationNature Genetics, 9
-
M. Kimura, T. Ohta (1973)
The age of a neutral mutant persisting in a finite population.Genetics, 75 1
-
B. Devlin, N. Risch, K. Roeder (1996)
Disequilibrium mapping: composite likelihood for pairwise disequilibrium.Genomics, 36 1
-
(2000)
2 Annual Reviews AR104-09 ESTIMATING ALLELE AGE 247 -
M. McPeek, A. Strahs (1999)
Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.American journal of human genetics, 65 3
-
B. Rannala, M. Slatkin (1998)
Likelihood analysis of disequilibrium mapping, and related problems.American journal of human genetics, 62 2
-
M. Slatkin, B. Rannala (1997)
Estimating the age of alleles by use of intraallelic variability.American journal of human genetics, 60 2
-
Takeo Maruyama (1974)
The age of an allele in a finite population.Genetical research, 23 2
-
Josée Pagnier, JG Mears, O. Dunda-Belkhodja, K. Schaefer-Rego, C. Beldjord, Ronald Nagel, Dominique Labie (1984)
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.Proceedings of the National Academy of Sciences of the United States of America, 81 6
-
J. Stephens, D. Reich, D. Goldstein, H. Shin, Michael Smith, M. Carrington, C. Winkler, G. Huttley, R. Allikmets, L. Schriml, B. Gerrard, Michael Malasky, M. Ramos, S. Morlot, M. Tzetis, C. Oddoux, F. Giovine, G. Nasioulas, D. Chandler, M. Aseev, M. Hanson, L. Kalaydjieva, D. Glavač, P. Gasparini, E. Kanavakis, M. Claustres, M. Kambouris, H. Ostrer, G. Duff, V. Baranov, H. Sibul, A. Metspalu, D. Goldman, Nicholas Martin, D. Duffy, J. Schmidtke, X. Estivill, Stephen O’Brien, M. Dean (1998)
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.American journal of human genetics, 62 6
-
R. Cann (1995)
The history and geography of human genesThe Journal of Asian Studies, 54
-
R. Griffiths, S. Tavaré (1999)
The ages of mutations in gene treesAnnals of Applied Probability, 9
-
斎藤 成也, 清水 展, 尾本 恵市 (1988)
On the effect of the fluctuating population size on the age of a mutant gene., 96
-
D. Goldstein, D. Reich, N. Bradman, S. Usher, U. Seligsohn, H. Peretz (1999)
Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.American journal of human genetics, 64 4
-
D. Roberts, L. Cavalli-Sforza (1996)
The History and Geography of Human GenesJournal of the Royal Anthropological Institute, 2
-
N. Saitou, H. Shimizu, K. Omoto (1988)
On the Effect of the Fluctuating Population Size on the Age of a Mutant GeneThe Journal of Anthropological Society of Nippon, 96
-
N. Morral, Jaume Bertranpetit, Xavier Estivill, V. Nunes, T. Casals, J. Giménez, André Reis, R. Varon‐Mateeva, Milan Macek, Milan Macek, Luba Kalaydjieva, D. Angelicheva, R. Dancheva, Giovanni Romeo, Maria Russo, S. Garnerone, Gabriella Restagno, Maurizio Ferrari, C. Magnani, M. Claustres, M. Desgeorges, M. Schwartz, Martin Schwarz, Bruno Dallapiccola, Giuseppe Novelli, Claude Férec, M. Arce, M. Nemeti, M. Nemeti, Juha Kere, Maria Anvret, Niklas Dahl, Ludovit Kadasi (1994)
The origin of the major cystic fibrosis mutation (ΔF508) in European populationsNature Genetics, 7
-
R. Hudson (1990)
Gene genealogies and the coalescent process., 7
-
M. Slatkin (1996)
Gene genealogies within mutant allelic classes.Genetics, 143 1
-
R. Thomson (1998)
Ages of mutations on a coalescent tree.Mathematical biosciences, 153 1
-
R. Bar-Sade, L. Theodor, E. Gak, A. Kruglikova, Galit Hirsch-Yechezkel, B. Modan, G. Kuperstein, U. Seligsohn, G. Rechavi, E. Friedman (1997)
Could the 185 deIAG BRCA1 Mutation Be an Ancient Jewish Mutation?European Journal of Human Genetics, 5
-
B. Kerem (1989)
Identification of the cystic fibrosis gene: genetic analysisTrends in Genetics, 5
-
E. Pras, Y. Kreiss, Y. Frishberg, L. Prosen, I. Aksentijevich, D. Kastner (1999)
Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients.Genomics, 60 2
-
Sun-Wei Guo, Momiao Xiong (1997)
Estimating the age of mutant disease alleles based on linkage disequilibrium.Human heredity, 47 6
-
M. Labuda, D. Labuda, M. Korab-Laskowska, D. Cole, E. Ziętkiewicz, J. Weissenbach, E. Popowska, E. Pronicka, A. Root, F. Glorieux (1996)
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.American journal of human genetics, 59 3
-
J. Terwilliger (1995)
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.American journal of human genetics, 56 3
-
T. Maruyama (1974)
The age of a rare mutant gene in a large population.American journal of human genetics, 26 6
-
G. Watterson (1977)
Reversibility and the age of an allele. II. Two-allele models, with selection and mutation.Theoretical population biology, 12 2
- Publisher
- Annual Reviews
- Copyright
- Copyright © 2000 by Annual Reviews. All rights reserved
- Subject
- Review Articles
- ISSN
- 1527-8204
- eISSN
- 1545-293X
- DOI
- 10.1146/annurev.genom.1.1.225
- pmid
- 11701630
- Publisher site
- See Article on Publisher Site
Abstract
▪ Abstract The age of an allele can be estimated both from genetic variation among different copies (intra-allelic variation) and from its frequency. Estimates based on intra-allelic variation follow from the exponential decay of linkage disequilibrium because of recombination and mutation. The confidence interval depends both on the uncertainty in recombination and mutation rates and on randomness of the genealogy of chromosomes that carry the allele (the intra-allelic genealogy). Several approximate methods to account for variation in the intra-allelic genealogy have been derived. Allele frequency alone also provides an estimate of age. Estimates based on frequency and on intra-allelic variability can be combined to provide a more accurate estimate or can be contrasted to show that an allele has been subject to natural selection. These methods have been applied to numerous cases, including alleles associated with cystic fibrosis, idiopathic torsion dystonia, and resistance to infection by HIV. We emphasize that estimates of allele age depend on assumptions about demographic history and natural selection.
Journal
Annual Review of Genomics and Human Genetics – Annual Reviews
Published: Sep 1, 2000