메뉴 건너뛰기




Volumn 60, Issue 6, 1997, Pages 1513-1531

Fine-scale genetic mapping based on linkage disequilibrium: Theory and applications

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; CYSTIC FIBROSIS; FRIEDREICH ATAXIA; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; HUNTINGTON CHOREA; MATHEMATICAL COMPUTING; MOLECULAR CLONING; MYOCLONUS EPILEPSY; PREDICTION; PRIORITY JOURNAL; THEORY;

EID: 0030994211     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515475     Document Type: Article
Times cited : (131)

References (61)
  • 2
    • 0028070381 scopus 로고
    • Limits of resolution of genetic linkage studies: Implications for the positional cloning of human disease genes
    • Boehnke WF (1994) Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes. Am J Hum Genet 55:379-390
    • (1994) Am J Hum Genet , vol.55 , pp. 379-390
    • Boehnke, W.F.1
  • 4
    • 0026849567 scopus 로고
    • Positional cloning: Let's not call it reverse anymore
    • Collins FS (1992) Positional cloning: let's not call it reverse anymore. Nat Genet 1:3-6
    • (1992) Nat Genet , vol.1 , pp. 3-6
    • Collins, F.S.1
  • 5
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Compuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monticeli A, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
    • (1996) Science , vol.271 , pp. 1423-1427
    • Compuzano, V.1    Montermini, L.2    Molto, M.D.3    Pianese, L.4    Cossee, M.5    Cavalcanti, F.6    Monticeli, A.7
  • 8
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium measures for fine-scale mapping
    • Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322
    • (1995) Genomics , vol.29 , pp. 311-322
    • Devlin, B.1    Risch, N.2
  • 10
    • 34249018902 scopus 로고
    • The rhesus factor: A study in scientific method
    • Fisher RA (1947) The rhesus factor: a study in scientific method. Am Sci 35:95-103
    • (1947) Am Sci , vol.35 , pp. 95-103
    • Fisher, R.A.1
  • 11
    • 0025248835 scopus 로고
    • Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium in Friedreich ataxia
    • Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL (1990) Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium in Friedreich ataxia. Proc Natl Acad Sci USA 87:1796-1800
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1796-1800
    • Fujita, R.1    Hanauer, A.2    Sirugo, G.3    Heilig, R.4    Mandel, J.L.5
  • 13
    • 0000178021 scopus 로고
    • The combination of linkage values and the calculation of distance between the loci of linked factors
    • Haldane JBS (1919) The combination of linkage values and the calculation of distance between the loci of linked factors. J Genet 8:299-309
    • (1919) J Genet , vol.8 , pp. 299-309
    • Haldane, J.B.S.1
  • 15
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
    • (1992) Nat Genet , vol.2 , pp. 204-211
    • Hästbacka, J.1    De La Chapelle, A.2    Kaitila, I.3    Sistonen, P.4    Weaver, A.5    Lander, E.6
  • 16
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloining by fine-structure linkage disequilibrium mapping
    • Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, et al (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloining by fine-structure linkage disequilibrium mapping. Cell 78:1078-1087
    • (1994) Cell , vol.78 , pp. 1078-1087
    • Hästbacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3    Clines, G.4    Reeve-Daly, M.P.5    Daly, M.6    Hamilton, B.A.7
  • 17
    • 0018988907 scopus 로고
    • Hitchhiking: A comparison of linkage and partial selfing
    • Hedrick PW (1980) Hitchhiking: a comparison of linkage and partial selfing. Genetics 94:791-808
    • (1980) Genetics , vol.94 , pp. 791-808
    • Hedrick, P.W.1
  • 18
    • 0345435313 scopus 로고
    • Non-random association of neutral linked genes in finite populations
    • Karlin S, Nevo E (eds) Academic Press, New York
    • Hill WG (1976) Non-random association of neutral linked genes in finite populations. In: Karlin S, Nevo E (eds) Population genetics and ecology. Academic Press, New York, pp 339-376
    • (1976) Population Genetics and Ecology , pp. 339-376
    • Hill, W.G.1
  • 19
    • 33646226097 scopus 로고
    • Linkage disequilibrium in finite populations
    • Hill WG, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38:226-231
    • (1968) Theor Appl Genet , vol.38 , pp. 226-231
    • Hill, W.G.1    Robertson, A.2
  • 20
    • 0028298036 scopus 로고
    • Maximum-likelihood estimation of gene location by linkage disequilibrium
    • Hill WG, Weir BS (1994) Maximum-likelihood estimation of gene location by linkage disequilibrium. Am J Hum Genet 54:705-714
    • (1994) Am J Hum Genet , vol.54 , pp. 705-714
    • Hill, W.G.1    Weir, B.S.2
  • 21
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 22
    • 0001813875 scopus 로고
    • The numerical results of diverse systems of breeding, with respect to two pairs of characters, linked or independent, with special relation to the effects of linkage
    • Jennings HS (1917) The numerical results of diverse systems of breeding, with respect to two pairs of characters, linked or independent, with special relation to the effects of linkage. Genetics 2:97-154
    • (1917) Genetics , vol.2 , pp. 97-154
    • Jennings, H.S.1
  • 23
    • 0028894185 scopus 로고
    • Linkage disequilibrium as a gene-mapping tool
    • Jorde LB (1995) Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet 56:11-14
    • (1995) Am J Hum Genet , vol.56 , pp. 11-14
    • Jorde, L.B.1
  • 25
    • 0028834034 scopus 로고
    • Likelihood methods for locating disease genes in nonequilibrium populations
    • Kaplan NL, Hill WG, Weir BS (1995) Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet 56:18-32
    • (1995) Am J Hum Genet , vol.56 , pp. 18-32
    • Kaplan, N.L.1    Hill, W.G.2    Weir, B.S.3
  • 26
    • 0028802716 scopus 로고
    • Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population
    • Kaplan NL, Weir BS (1995) Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population. Am J Hum Genet 57:1486-1498
    • (1995) Am J Hum Genet , vol.57 , pp. 1486-1498
    • Kaplan, N.L.1    Weir, B.S.2
  • 29
    • 0001491895 scopus 로고
    • Survival processes of linked mutant genes
    • Kojima K, Schaffer HE (1967) Survival processes of linked mutant genes. Evolution 21:518-531
    • (1967) Evolution , vol.21 , pp. 518-531
    • Kojima, K.1    Schaffer, H.E.2
  • 30
    • 0022991467 scopus 로고
    • Mapping complex genetic traits in humans: New methods using a complete RFLP linkage map
    • Lander ES, Botstein D (1986) Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harbor Symp Quant Biol 51:49-62
    • (1986) Cold Spring Harbor Symp Quant Biol , vol.51 , pp. 49-62
    • Lander, E.S.1    Botstein, D.2
  • 32
    • 0027236091 scopus 로고
    • Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
    • Lehesjoki A-E, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A (1993) Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2:1229-1234
    • (1993) Hum Mol Genet , vol.2 , pp. 1229-1234
    • Lehesjoki, A.-E.1    Koskiniemi, M.2    Norio, R.3    Tirrito, S.4    Sistonen, P.5    Lander, E.6    De La Chapelle, A.7
  • 33
    • 0000951097 scopus 로고
    • The evolutionary dynamics of complex polymorphisms
    • Lewontin RC, Kojima K (1960) The evolutionary dynamics of complex polymorphisms. Evolution 14:450-472
    • (1960) Evolution , vol.14 , pp. 450-472
    • Lewontin, R.C.1    Kojima, K.2
  • 36
    • 0015891902 scopus 로고
    • Linkage disequilibrium in subdivided populations
    • Nei M, Li W-H (1973) Linkage disequilibrium in subdivided populations. Genetics 75:213-219
    • (1973) Genetics , vol.75 , pp. 213-219
    • Nei, M.1    Li, W.-H.2
  • 37
    • 33645650359 scopus 로고
    • Linkage disequilibrium due to random genetic drift
    • Ohta T, Kimura M (1969) Linkage disequilibrium due to random genetic drift. Genet Res 13:47-55
    • (1969) Genet Res , vol.13 , pp. 47-55
    • Ohta, T.1    Kimura, M.2
  • 38
    • 0015765702 scopus 로고
    • A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population
    • _ (1973) A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res 22:201-204
    • (1973) Genet Res , vol.22 , pp. 201-204
  • 40
    • 0025142114 scopus 로고
    • Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15
    • Pandolfo M, Sirugo G, Antonelli A, Weitnauer L, Ferretti L, Leone M, Dones I, et al (1990) Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am J Hum Genet 47:228-235
    • (1990) Am J Hum Genet , vol.47 , pp. 228-235
    • Pandolfo, M.1    Sirugo, G.2    Antonelli, A.3    Weitnauer, L.4    Ferretti, L.5    Leone, M.6    Dones, I.7
  • 43
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius LJ, Kramer P, Almasy L, Singer B, Fahn S, et al (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.J.3    Kramer, P.4    Almasy, L.5    Singer, B.6    Fahn, S.7
  • 44
    • 0001395261 scopus 로고
    • Some applications of mathematics to breeding problems. III
    • Robbins RB (1918) Some applications of mathematics to breeding problems. III. Genetics 3:375-389
    • (1918) Genetics , vol.3 , pp. 375-389
    • Robbins, R.B.1
  • 45
    • 0027229993 scopus 로고
    • VNTR allele frequency distributions under the stepwise mutation model: A computer simulation approach
    • Shriver MD, Lin L, Chakraborty R, Boerwinkle E (1993) VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics 134:983-993
    • (1993) Genetics , vol.134 , pp. 983-993
    • Shriver, M.D.1    Lin, L.2    Chakraborty, R.3    Boerwinkle, E.4
  • 46
    • 0015364716 scopus 로고
    • Analysis of multilocus genetic systems in Tecumseh, Michigan. II. Consideration of the correlation between nonalleles in gametes
    • Sinnock P, Sing CF (1972) Analysis of multilocus genetic systems in Tecumseh, Michigan. II. Consideration of the correlation between nonalleles in gametes. Am J Hum Genet 24: 393-415
    • (1972) Am J Hum Genet , vol.24 , pp. 393-415
    • Sinnock, P.1    Sing, C.F.2
  • 47
    • 0028333697 scopus 로고
    • Linkage disequilibrium in growing and stable populations
    • Slatkin M (1994) Linkage disequilibrium in growing and stable populations. Genetics 137:331-336
    • (1994) Genetics , vol.137 , pp. 331-336
    • Slatkin, M.1
  • 48
    • 0017725291 scopus 로고
    • Multivariate analysis of gametic disequilibrium in the Yanomama
    • Smouse PE, Neel JV (1977) Multivariate analysis of gametic disequilibrium in the Yanomama. Genetics 85:733-752
    • (1977) Genetics , vol.85 , pp. 733-752
    • Smouse, P.E.1    Neel, J.V.2
  • 50
    • 19144369837 scopus 로고    scopus 로고
    • Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene
    • Stone NE, Fan JB, Willour V, Pennacchio LA, Warrington JA, Hu A, de la Chapelle A, et al (1996) Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. Genome Res 6:218-225
    • (1996) Genome Res , vol.6 , pp. 218-225
    • Stone, N.E.1    Fan, J.B.2    Willour, V.3    Pennacchio, L.A.4    Warrington, J.A.5    Hu, A.6    De La Chapelle, A.7
  • 51
    • 0028968329 scopus 로고
    • A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
    • Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56: 777-787
    • (1995) Am J Hum Genet , vol.56 , pp. 777-787
    • Terwilliger, J.D.1
  • 52
    • 0024456037 scopus 로고
    • Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene
    • Theilmann J, Kanani S, Shiang R, Robbins C, Quarrell O, Huggins M, Hedrick A, et al (1989) Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet 26:676-681
    • (1989) J Med Genet , vol.26 , pp. 676-681
    • Theilmann, J.1    Kanani, S.2    Shiang, R.3    Robbins, C.4    Quarrell, O.5    Huggins, M.6    Hedrick, A.7
  • 53
    • 0017683085 scopus 로고
    • The effect of a selected locus on linked neutral loci
    • Thomson G (1977) The effect of a selected locus on linked neutral loci. Genetics 85:753-788
    • (1977) Genetics , vol.85 , pp. 753-788
    • Thomson, G.1
  • 54
    • 16944364785 scopus 로고
    • Selection and stability in the complex polymorphism of Moraba senna
    • Turner JR (1971) Selection and stability in the complex polymorphism of Moraba senna. Evolution 26:334-343
    • (1971) Evolution , vol.26 , pp. 334-343
    • Turner, J.R.1
  • 55
    • 0027474097 scopus 로고
    • Allele frequencies at microsatellite loci: The stepwise model revisited
    • Valdes AM, Slatkin M, Freimer N (1993) Allele frequencies at microsatellite loci: the stepwise model revisited. Genetics 133:737-749
    • (1993) Genetics , vol.133 , pp. 737-749
    • Valdes, A.M.1    Slatkin, M.2    Freimer, N.3
  • 57
    • 0027161022 scopus 로고
    • Mutation of human short tandem repeats
    • Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
    • (1993) Hum Mol Genet , vol.2 , pp. 1123-1128
    • Weber, J.L.1    Wong, C.2
  • 58
    • 34347189245 scopus 로고
    • Über Vererbungsgesetze beim Menschen
    • Weinberg W (1909) Über Vererbungsgesetze beim Menschen. Z Abst V Vererb 1:277-330
    • (1909) Z Abst V Vererb , vol.1 , pp. 277-330
    • Weinberg, W.1
  • 59
    • 0024797173 scopus 로고
    • Locating the cystic fibrosis gene on the basis of linkage disequilibrium with markers?
    • Elston RC, Spence MA, Hodge SE, MacCluer JW (eds) AR Liss, New York
    • Weir BS (1989) Locating the cystic fibrosis gene on the basis of linkage disequilibrium with markers? In: Elston RC, Spence MA, Hodge SE, MacCluer JW (eds) Multipoint mapping and linkage based on affected pedigree members: Genetic Analysis Workshop 6. AR Liss, New York, pp 81-86
    • (1989) Multipoint Mapping and Linkage Based on Affected Pedigree Members: Genetic Analysis Workshop 6 , pp. 81-86
    • Weir, B.S.1
  • 60
    • 0142125930 scopus 로고
    • Analysis of complex allozyme polymorphisms in a barley population
    • Weir BS, Allard RW, Kahler AL (1972) Analysis of complex allozyme polymorphisms in a barley population. Genetics 72:505-523
    • (1972) Genetics , vol.72 , pp. 505-523
    • Weir, B.S.1    Allard, R.W.2    Kahler, A.L.3
  • 61
    • 0003086095 scopus 로고
    • Complete characterization of disequilibrium at two loci
    • Feldman MW (ed) Princeton University Press, Princeton
    • Weir BS, Cockerham CC (1989) Complete characterization of disequilibrium at two loci. In: Feldman MW (ed) Mathematical evolutionary theory. Princeton University Press, Princeton, pp. 86-110
    • (1989) Mathematical Evolutionary Theory , pp. 86-110
    • Weir, B.S.1    Cockerham, C.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.