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Volumn 19, Issue 1, 1997, Pages 3-13

Impact of the human genome project on epidemiologic research

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; DIAGNOSTIC TEST; DNA SEQUENCE; EPIDEMIOLOGY; GENE ISOLATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; INFORMATION PROCESSING; MEDICAL ETHICS; MEDICAL GENETICS; MEDICAL RESEARCH; MOLECULAR GENETICS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SOCIAL ASPECT;

EID: 0030697944     PISSN: 0193936X     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.epirev.a017943     Document Type: Review
Times cited : (19)

References (103)
  • 1
    • 0004179806 scopus 로고
    • Chicago, IL: The University of Chicago Press
    • Neel JV, Schull WJ. Human heredity. Chicago, IL: The University of Chicago Press, 1954.
    • (1954) Human Heredity
    • Neel, J.V.1    Schull, W.J.2
  • 6
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245:1073-80.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 7
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3
  • 8
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3
  • 9
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3.
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 10
    • 0025312728 scopus 로고
    • A genetic model for colorectal tumorigenesis
    • Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.
    • (1990) Cell , vol.61 , pp. 759-767
    • Fearon, E.R.1    Vogelstein, B.2
  • 12
    • 0025986755 scopus 로고
    • The Human Genome Project: Prospects and implications for clinical medicine
    • Green ED, Waterston RH. The Human Genome Project: prospects and implications for clinical medicine. JAMA 1991;266:1966-75.
    • (1991) JAMA , vol.266 , pp. 1966-1975
    • Green, E.D.1    Waterston, R.H.2
  • 13
    • 0027164278 scopus 로고
    • The Human Genome Project: History, goals, and progress to date
    • Engel LW. The Human Genome Project: history, goals, and progress to date. Arch Pathol Lab Med 1993;117:459-65.
    • (1993) Arch Pathol Lab Med , vol.117 , pp. 459-465
    • Engel, L.W.1
  • 14
    • 0027158344 scopus 로고
    • The Human Genome Project
    • Olson MV. The Human Genome Project. Proc Natl Acad Sci USA 1993;90:4338-44.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4338-4344
    • Olson, M.V.1
  • 15
    • 0001474910 scopus 로고
    • The Human Genome Project and its impact on the study of human disease
    • Scriver CR, Beaudet AL, Sly WS, et al., eds. New York, NY: McGraw-Hill
    • Green ED, Cox DR, Myers RM. The Human Genome Project and its impact on the study of human disease. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. Vol 1. 7th ed. New York, NY: McGraw-Hill, 1995:401-36
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. Vol 1. 7th Ed. , vol.1 , pp. 401-436
    • Green, E.D.1    Cox, D.R.2    Myers, R.M.3
  • 16
    • 0025901088 scopus 로고
    • Parameters of the human genome
    • Morton NE. Parameters of the human genome. Proc Natl Acad Sci U S A 1991;88:7474-6.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 7474-7476
    • Morton, N.E.1
  • 17
    • 0016165317 scopus 로고
    • The gene numbers game
    • Bishop JO. The gene numbers game. Cell 1974;2:81-6.
    • (1974) Cell , vol.2 , pp. 81-86
    • Bishop, J.O.1
  • 18
    • 0028296185 scopus 로고
    • Mining treasures from "junk DNA."
    • Nowak R. Mining treasures from "junk DNA." (News). Science 1994;263:608-10.
    • (1994) Science , vol.263 , pp. 608-610
    • Nowak, R.1
  • 19
    • 0025320157 scopus 로고
    • Orchestrating the Human Genome Project
    • Cantor CR. Orchestrating the Human Genome Project. Science 1990;248:49-51.
    • (1990) Science , vol.248 , pp. 49-51
    • Cantor, C.R.1
  • 20
    • 0025318743 scopus 로고
    • The Human Genome Project: Past, present, and future
    • Watson JD. The Human Genome Project: past, present, and future. Science 1990;248:44-9.
    • (1990) Science , vol.248 , pp. 44-49
    • Watson, J.D.1
  • 21
    • 0004347147 scopus 로고
    • Bethesda, MD: Department of Health and Human Services, Public Health Service, National Institutes of Health, National Center for Human Genome Research; and US Department of Energy, Office of Energy Research, Office of Health and Environmental Research, Human Genome Program
    • Understanding our genetic inheritance - The US Human Genome Project: the first five years, FY 1991-1995. Bethesda, MD: Department of Health and Human Services, Public Health Service, National Institutes of Health, National Center for Human Genome Research; and US Department of Energy, Office of Energy Research, Office of Health and Environmental Research, Human Genome Program, 1990.
    • (1990) Understanding Our Genetic Inheritance - The US Human Genome Project: The First Five Years, FY 1991-1995
  • 22
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 23
    • 0022494269 scopus 로고
    • Cloning the gene for an inherited human disorder - Chronic granulomatous disease - On the basis of its chromosomal location
    • Royer-Pokora B, Kunkel LM, Monaco AP, et al. Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature 1986;322:32-8.
    • (1986) Nature , vol.322 , pp. 32-38
    • Royer-Pokora, B.1    Kunkel, L.M.2    Monaco, A.P.3
  • 24
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 25
    • 0028231090 scopus 로고
    • The 1993-94 Généthon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7 (spec no):246-339.
    • (1994) Nat Genet , vol.7 , Issue.SPEC NO , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 26
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3
  • 27
    • 0024980741 scopus 로고
    • A common language for physical mapping of the human genome
    • Olson M, Hood L, Cantor C, et al. A common language for physical mapping of the human genome. Science 1989;245: 1434-5.
    • (1989) Science , vol.245 , pp. 1434-1435
    • Olson, M.1    Hood, L.2    Cantor, C.3
  • 28
    • 0029416826 scopus 로고
    • An STS-based map of the human genome
    • Hudson TJ, Stein LD, Gerety SS, et al. An STS-based map of the human genome. Science 1995;270:1945-54.
    • (1995) Science , vol.270 , pp. 1945-1954
    • Hudson, T.J.1    Stein, L.D.2    Gerety, S.S.3
  • 29
    • 0029653613 scopus 로고
    • Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence
    • Adams MD, Kerlavage AR, Fleischmann RD, et al. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Nature 1995;377(6547 Suppl):3-174.
    • (1995) Nature , vol.377 , Issue.6547 SUPPL. , pp. 3-174
    • Adams, M.D.1    Kerlavage, A.R.2    Fleischmann, R.D.3
  • 30
    • 0024670407 scopus 로고
    • The human growth hormone locus: Nucleotide sequence, biology, and evolution
    • Chen EY, Liao YC, Smith DH, et al. The human growth hormone locus: nucleotide sequence, biology, and evolution. Genomics 1989;4:479-97.
    • (1989) Genomics , vol.4 , pp. 479-497
    • Chen, E.Y.1    Liao, Y.C.2    Smith, D.H.3
  • 31
    • 11944271622 scopus 로고
    • Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3
    • Martin-Gallardo A, McCombie WR, Gocayne JD, et al. Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3. Nat Genet 1992;1:34-9.
    • (1992) Nat Genet , vol.1 , pp. 34-39
    • Martin-Gallardo, A.1    McCombie, W.R.2    Gocayne, J.D.3
  • 32
    • 0030017526 scopus 로고    scopus 로고
    • The complete 685-kilobase DNA sequence of the human β T cell receptor locus
    • Rowen L, Koop BF, Hood L. The complete 685-kilobase DNA sequence of the human β T cell receptor locus. Science 1996;272:1755-62.
    • (1996) Science , vol.272 , pp. 1755-1762
    • Rowen, L.1    Koop, B.F.2    Hood, L.3
  • 33
    • 0025280718 scopus 로고
    • Development of an automated procedure for fluorescent DNA sequencing
    • Wilson RK, Chen C, Avdalovic N, et al. Development of an automated procedure for fluorescent DNA sequencing. Genomics 1990;6:626-34.
    • (1990) Genomics , vol.6 , pp. 626-634
    • Wilson, R.K.1    Chen, C.2    Avdalovic, N.3
  • 35
    • 0030063730 scopus 로고    scopus 로고
    • Energy transfer primers: A new fluorescence labeling paradigm for DNA sequencing and analysis
    • Ju J, Glazer AN, Mathies RA. Energy transfer primers: a new fluorescence labeling paradigm for DNA sequencing and analysis. Nat Med 1996;2:246-9.
    • (1996) Nat Med , vol.2 , pp. 246-249
    • Ju, J.1    Glazer, A.N.2    Mathies, R.A.3
  • 36
    • 0025966571 scopus 로고
    • DNA sequencing: Present limitations and prospects for the future
    • Barrell B. DNA sequencing: present limitations and prospects for the future. FASEB J 1991;5:40-5.
    • (1991) FASEB J , vol.5 , pp. 40-45
    • Barrell, B.1
  • 37
    • 0026075541 scopus 로고
    • Large-scale and automated DNA sequence determination
    • Hunkapiller T, Kaiser RJ, Koop BF, et al. Large-scale and automated DNA sequence determination. Science 1991;254: 59-67.
    • (1991) Science , vol.254 , pp. 59-67
    • Hunkapiller, T.1    Kaiser, R.J.2    Koop, B.F.3
  • 38
    • 0026033016 scopus 로고
    • The Human Genome Project: A paradigm for information management in the life sciences
    • Pearson ML, Söil D. The Human Genome Project: a paradigm for information management in the life sciences. FASEB J 1991;5:35-9.
    • (1991) FASEB J , vol.5 , pp. 35-39
    • Pearson, M.L.1    Söil, D.2
  • 39
    • 0029782253 scopus 로고    scopus 로고
    • Perspectives: Sequence data base searching in the era of large-scale genomic sequencing
    • Smith RF. Perspectives: sequence data base searching in the era of large-scale genomic sequencing. Genome Res 1996; 6:653-60.
    • (1996) Genome Res , vol.6 , pp. 653-660
    • Smith, R.F.1
  • 40
    • 0029355897 scopus 로고
    • Establishing a human transcript map
    • Boguski MS, Schuler GD. ESTablishing a human transcript map. Nat Genet 1995;10:369-71.
    • (1995) Nat Genet , vol.10 , pp. 369-371
    • Boguski, M.S.1    Schuler, G.D.2
  • 41
    • 84880534233 scopus 로고    scopus 로고
    • Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine
    • Online Mendelian Inheritance in Man (OMIM). Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine (www.ncbi.nlm.nih.gov/Omim). Accessed 1996.
    • Online Mendelian Inheritance in Man (OMIM)
  • 43
    • 0023894935 scopus 로고
    • The affected-pedigree-member method of linkage analysis
    • Weeks DE, Lange K. The affected-pedigree-member method of linkage analysis. Am J Hum Genet 1988;42:315-26.
    • (1988) Am J Hum Genet , vol.42 , pp. 315-326
    • Weeks, D.E.1    Lange, K.2
  • 44
    • 0028058128 scopus 로고
    • Robust variance-components approach for assessing genetic linkage in pedigrees
    • Amos CI. Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 1994;54: 535-43.
    • (1994) Am J Hum Genet , vol.54 , pp. 535-543
    • Amos, C.I.1
  • 45
    • 0029001682 scopus 로고
    • Extreme discordant sib pairs for mapping quantitative trait loci in humans
    • Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584-9.
    • (1995) Science , vol.268 , pp. 1584-1589
    • Risch, N.1    Zhang, H.2
  • 47
    • 9044243415 scopus 로고    scopus 로고
    • A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2
    • Hanis CL, Boerwinkle E, Chakraborty R, et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 1996;13:161-6.
    • (1996) Nat Genet , vol.13 , pp. 161-166
    • Hanis, C.L.1    Boerwinkle, E.2    Chakraborty, R.3
  • 48
    • 0027409212 scopus 로고
    • Linkage analysis of "necessary" disease loci versus "susceptibility" loci
    • Greenberg DA. Linkage analysis of "necessary" disease loci versus "susceptibility" loci. Am J Hum Genet 1993;52: 135-43.
    • (1993) Am J Hum Genet , vol.52 , pp. 135-143
    • Greenberg, D.A.1
  • 49
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 50
    • 0029064537 scopus 로고
    • Mapping disease genes: Family-based association studies
    • Thomson G. Mapping disease genes: family-based association studies. Am J Hum Genet 1995;57:487-98.
    • (1995) Am J Hum Genet , vol.57 , pp. 487-498
    • Thomson, G.1
  • 51
    • 0026849567 scopus 로고
    • Positional cloning: Let's not call it reverse anymore
    • Collins FS. Positional cloning: let's not call it reverse anymore. (News). Nat Genet 1992;1:3-6.
    • (1992) Nat Genet , vol.1 , pp. 3-6
    • Collins, F.S.1
  • 52
    • 0025574865 scopus 로고
    • Identifying human disease genes by positional cloning
    • Collins FS. Identifying human disease genes by positional cloning. Harvey Lect 1990-1991;86:149-64.
    • (1990) Harvey Lect , vol.86 , pp. 149-164
    • Collins, F.S.1
  • 53
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • Collins FS. Positional cloning moves from perditional to traditional. Nat Genet 1995;9:347-50.
    • (1995) Nat Genet , vol.9 , pp. 347-350
    • Collins, F.S.1
  • 54
    • 0029789682 scopus 로고    scopus 로고
    • Genetic analysis of atherosclerosis: A research paradigm for the common chronic diseases
    • Boerwinkle E, Ellsworth DL, Hallman DM, et al. Genetic analysis of atherosclerosis: a research paradigm for the common chronic diseases. Hum MoL Genet 1996;5(spec no): 1405-10.
    • (1996) Hum Mol Genet , vol.5 , Issue.SPEC NO , pp. 1405-1410
    • Boerwinkle, E.1    Ellsworth, D.L.2    Hallman, D.M.3
  • 55
    • 0028871202 scopus 로고
    • Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
    • Bennett ST, Lucassen AM, Gough SCL, et al. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 1995;9:284-92.
    • (1995) Nat Genet , vol.9 , pp. 284-292
    • Bennett, S.T.1    Lucassen, A.M.2    Gough, S.C.L.3
  • 56
    • 0028881617 scopus 로고
    • The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription
    • Kennedy GC, German MS, Ratter WJ. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 1995;9:293-8.
    • (1995) Nat Genet , vol.9 , pp. 293-298
    • Kennedy, G.C.1    German, M.S.2    Ratter, W.J.3
  • 57
    • 0029081674 scopus 로고
    • Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map
    • Berry R, Stevens TJ, Walter NAR, et al. Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map. Nat Genet 1995;10:415-23.
    • (1995) Nat Genet , vol.10 , pp. 415-423
    • Berry, R.1    Stevens, T.J.2    Walter, N.A.R.3
  • 59
    • 0029118499 scopus 로고
    • Comparative genomics, genome cross-referencing and XREFdb
    • Bassett DE Jr, Boguski MS, Spencer F, et al. Comparative genomics, genome cross-referencing and XREFdb. Trends Genet 1995;11-.372-3.
    • (1995) Trends Genet , vol.11 , pp. 372-373
    • Bassett Jr., D.E.1    Boguski, M.S.2    Spencer, F.3
  • 62
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 63
    • 0002105890 scopus 로고    scopus 로고
    • Mutation detection by cleavase fragment length polymorphism analysis
    • Brow MD, Oldenburg M, Lyamichev V, et al. Mutation detection by cleavase fragment length polymorphism analysis. Focus 1996;18:2-5.
    • (1996) Focus , vol.18 , pp. 2-5
    • Brow, M.D.1    Oldenburg, M.2    Lyamichev, V.3
  • 64
    • 0000520711 scopus 로고
    • Systematic search for polymorphisms in the human genome using denaturing high-performance liquid chromatography (DHPLC)
    • Jin L, Underhill PA, Oefner PJ, et al. Systematic search for polymorphisms in the human genome using denaturing high-performance liquid chromatography (DHPLC). (Abstract). Am J Hum Genet 1995;57(suppl):A26.
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Jin, L.1    Underhill, P.A.2    Oefner, P.J.3
  • 65
    • 0027435938 scopus 로고
    • The rapid detection of unknown mutations in nucleic acids
    • Grompe M. The rapid detection of unknown mutations in nucleic acids. Nat Genet 1993;5:111-17.
    • (1993) Nat Genet , vol.5 , pp. 111-117
    • Grompe, M.1
  • 66
    • 0028811334 scopus 로고
    • A time to sequence
    • Olson MV. A time to sequence. Science 1995;270:394-6.
    • (1995) Science , vol.270 , pp. 394-396
    • Olson, M.V.1
  • 67
    • 0023425198 scopus 로고
    • A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. I. Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila
    • Templeton AR, Boerwinkle E, Sing CF. A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. I. Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila. Genetics 1987;117:343-51.
    • (1987) Genetics , vol.117 , pp. 343-351
    • Templeton, A.R.1    Boerwinkle, E.2    Sing, C.F.3
  • 68
    • 0027944781 scopus 로고
    • Multiple DNA variant association analysis: Application to the insulin gene region in type I diabetes
    • Julier C, Lucassen A, Villedieu P, et al. Multiple DNA variant association analysis: application to the insulin gene region in type I diabetes. Am J Hum Genet 1994;55: 1247-54.
    • (1994) Am J Hum Genet , vol.55 , pp. 1247-1254
    • Julier, C.1    Lucassen, A.2    Villedieu, P.3
  • 70
    • 0027399170 scopus 로고
    • Ancient conserved regions in new gene sequences and the protein databases
    • Green P, Lipman D, Hillier L, et al. Ancient conserved regions in new gene sequences and the protein databases. Science 1993;259:1711-16.
    • (1993) Science , vol.259 , pp. 1711-1716
    • Green, P.1    Lipman, D.2    Hillier, L.3
  • 71
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe M, Rao MRS, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.2    Rao, M.R.S.3
  • 72
    • 0026536066 scopus 로고
    • Generation of mice carrying a mutant apolipoprotein E gene inactivated by gene targeting in embryonic stem cells
    • Piedrahita JA, Zhang SH, Hagaman JR, et al. Generation of mice carrying a mutant apolipoprotein E gene inactivated by gene targeting in embryonic stem cells. Proc Natl Acad Sci U S A 1992;89:4471-5.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 4471-4475
    • Piedrahita, J.A.1    Zhang, S.H.2    Hagaman, J.R.3
  • 73
    • 0026057848 scopus 로고
    • Expression of human apolipoprotein A-I in transgenic mice results in reduced plasma levels of murine apolipoprotein A-I and the appearance of two new high density lipoprotein size subclasses
    • Rubin EM, Ishida BY, Clift SM, et al. Expression of human apolipoprotein A-I in transgenic mice results in reduced plasma levels of murine apolipoprotein A-I and the appearance of two new high density lipoprotein size subclasses. Proc Natl Acad Sci U S A 1991;88:434-8.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 434-438
    • Rubin, E.M.1    Ishida, B.Y.2    Clift, S.M.3
  • 74
    • 0028280609 scopus 로고
    • The properties of HDL in genetically engineered mice
    • Schultz JR, Rubin EM. The properties of HDL in genetically engineered mice. Curr Opin Lipidol 1994;5:126-37.
    • (1994) Curr Opin Lipidol , vol.5 , pp. 126-137
    • Schultz, J.R.1    Rubin, E.M.2
  • 75
    • 0029019464 scopus 로고
    • Gene targeting approaches to complex genetic diseases: Atherosclerosis and essential hypertension
    • Smithies O, Maeda N. Gene targeting approaches to complex genetic diseases: atherosclerosis and essential hypertension. Proc Natl Acad Sci U S A 1995;92:5266-72.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 5266-5272
    • Smithies, O.1    Maeda, N.2
  • 76
    • 0026592806 scopus 로고
    • Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein E
    • Zhang SH, Reddick RL, Piedrahita JA, et al. Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein E. Science 1992;258:468-71.
    • (1992) Science , vol.258 , pp. 468-471
    • Zhang, S.H.1    Reddick, R.L.2    Piedrahita, J.A.3
  • 77
    • 0027373567 scopus 로고
    • Protein composition determines the anti-atherogenic properties of HDL in transgenic mice
    • Schultz JR, Verstuyft JG, Gong EL, et al. Protein composition determines the anti-atherogenic properties of HDL in transgenic mice. Nature 1993;365:762-4.
    • (1993) Nature , vol.365 , pp. 762-764
    • Schultz, J.R.1    Verstuyft, J.G.2    Gong, E.L.3
  • 78
    • 0027279942 scopus 로고
    • Atherosclerosis in transgenic mice overexpressing apolipoprotein A-II
    • Warden CH, Hedrick CC, Qiao JH, et al. Atherosclerosis in transgenic mice overexpressing apolipoprotein A-II. Science 1993;261:469-72.
    • (1993) Science , vol.261 , pp. 469-472
    • Warden, C.H.1    Hedrick, C.C.2    Qiao, J.H.3
  • 79
    • 0024502637 scopus 로고
    • Diagnosis of genetic disorders at the DNA level
    • Antonarakis SE. Diagnosis of genetic disorders at the DNA level. N Engl J Med 1989;320:153-63.
    • (1989) N Engl J Med , vol.320 , pp. 153-163
    • Antonarakis, S.E.1
  • 80
    • 0026714609 scopus 로고
    • The polymerase chain reaction: Its use in the molecular characterization and diagnosis of cancers
    • Kawasaki ES. The polymerase chain reaction: its use in the molecular characterization and diagnosis of cancers. Cancer Invest 1992;10:417-29.
    • (1992) Cancer Invest , vol.10 , pp. 417-429
    • Kawasaki, E.S.1
  • 81
    • 0026057753 scopus 로고
    • The polymerase chain reaction: Amplifying our options
    • Peter JB. The polymerase chain reaction: amplifying our options. Rev Infect Dis 1991;13:166-71.
    • (1991) Rev Infect Dis , vol.13 , pp. 166-171
    • Peter, J.B.1
  • 82
    • 0026720845 scopus 로고
    • Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction: A multicenter study
    • Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction: a multicenter study. JAMA 1992; 267:2609-15.
    • (1992) JAMA , vol.267 , pp. 2609-2615
  • 83
    • 0025814953 scopus 로고
    • Cystic fibrosis gene analysis: Recent diagnostic applications
    • Fujimura FK. Cystic fibrosis gene analysis: recent diagnostic applications. Clin Biochem 1991;24:353-61.
    • (1991) Clin Biochem , vol.24 , pp. 353-361
    • Fujimura, F.K.1
  • 84
    • 0028851972 scopus 로고
    • Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer
    • Jass JR, Cottier DS, Jeevaratnam P, et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet 1995;346:1200-1.
    • (1995) Lancet , vol.346 , pp. 1200-1201
    • Jass, J.R.1    Cottier, D.S.2    Jeevaratnam, P.3
  • 85
    • 0028841030 scopus 로고
    • Detection of BRCA1 mutations by the protein truncation test
    • Plummer SJ, Anton-Culver H, Webster L, et al. Detection of BRCA1 mutations by the protein truncation test. Hum Mol Genet 1995;4:1989-91.
    • (1995) Hum Mol Genet , vol.4 , pp. 1989-1991
    • Plummer, S.J.1    Anton-Culver, H.2    Webster, L.3
  • 86
    • 0025345058 scopus 로고
    • Apolipoprotein E: Genetic variants provide insights into its structure and function
    • Mahley RW, Innerarity TL, Rail SC Jr, et al. Apolipoprotein E: genetic variants provide insights into its structure and function. Curr Opin Lipidol 1990;1:87-95.
    • (1990) Curr Opin Lipidol , vol.1 , pp. 87-95
    • Mahley, R.W.1    Innerarity, T.L.2    Rail Jr., S.C.3
  • 87
    • 0019433761 scopus 로고
    • Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification
    • Zannis VI, Breslow JL. Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry 1981;20:1033-41.
    • (1981) Biochemistry , vol.20 , pp. 1033-1041
    • Zannis, V.I.1    Breslow, J.L.2
  • 88
    • 0023878396 scopus 로고
    • Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B, and cholesterol metabolism
    • Boerwinkle E, Utermann G. Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B, and cholesterol metabolism. Am J Hum Genet 1988;42:104-12.
    • (1988) Am J Hum Genet , vol.42 , pp. 104-112
    • Boerwinkle, E.1    Utermann, G.2
  • 89
    • 0026349433 scopus 로고
    • The apolipoprotein E polymorphism: A comparison of allele frequencies and effects in nine populations
    • Hallman DM, Boerwinkle E, Saha N, et al. The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations. Am J Hum Genet 1991;49: 338-49.
    • (1991) Am J Hum Genet , vol.49 , pp. 338-349
    • Hallman, D.M.1    Boerwinkle, E.2    Saha, N.3
  • 90
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8:1-21.
    • (1988) Arteriosclerosis , vol.8 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 91
    • 0020618569 scopus 로고
    • Apolipoprotein E polymorphism and coronary artery disease
    • Menzel HJ, Kladetzky RG, Assmann G. Apolipoprotein E polymorphism and coronary artery disease. Arteriosclerosis 1983;3:310-15.
    • (1983) Arteriosclerosis , vol.3 , pp. 310-315
    • Menzel, H.J.1    Kladetzky, R.G.2    Assmann, G.3
  • 92
    • 0022918434 scopus 로고
    • Association of apolipoprotein E polymorphism, low-density lipoprotein cholesterol, and coronary artery disease
    • Lenzen HJ, Assmann G, Buchwalsky R, et al. Association of apolipoprotein E polymorphism, low-density lipoprotein cholesterol, and coronary artery disease. Clin Chem 1986; 32:778-81.
    • (1986) Clin Chem , vol.32 , pp. 778-781
    • Lenzen, H.J.1    Assmann, G.2    Buchwalsky, R.3
  • 93
    • 0026594925 scopus 로고
    • Lipoproteins and their genetic variation in subjects with and without angiographically verified coronary artery disease
    • Nieminen MS, Mattila KJ, Aalto-Setälä K, et al. Lipoproteins and their genetic variation in subjects with and without angiographically verified coronary artery disease. Arterioscler Thromb 1992;12:58-69.
    • (1992) Arterioscler Thromb , vol.12 , pp. 58-69
    • Nieminen, M.S.1    Mattila, K.J.2    Aalto-Setälä, K.3
  • 94
    • 0028832051 scopus 로고
    • Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men
    • Stengård JH, Zerba KE, Pekkanen J, et al. Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation 1995;91:265-9.
    • (1995) Circulation , vol.91 , pp. 265-269
    • Stengård, J.H.1    Zerba, K.E.2    Pekkanen, J.3
  • 95
    • 0029125296 scopus 로고
    • Inherited breast and ovarian cancer
    • Szabo CI, King MC. Inherited breast and ovarian cancer. Hum Mol Genet 1995;4(spec no):1811-17.
    • (1995) Hum Mol Genet , vol.4 , Issue.SPEC NO , pp. 1811-1817
    • Szabo, C.I.1    King, M.C.2
  • 96
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 97
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378: 789-92.
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 98
    • 0030049353 scopus 로고    scopus 로고
    • BRCA1 - Lots of mutations, lots of dilemmas
    • Collins FS. BRCA1-lots of mutations, lots of dilemmas. (Editorial). N Engl J Med 1996;334:186-8.
    • (1996) N Engl J Med , vol.334 , pp. 186-188
    • Collins, F.S.1
  • 99
    • 0029849461 scopus 로고    scopus 로고
    • Coming to grips with genes and risk
    • Kahn P. Coming to grips with genes and risk. (News). Science 1996;274:496-8.
    • (1996) Science , vol.274 , pp. 496-498
    • Kahn, P.1
  • 100
    • 0027288305 scopus 로고
    • Ethics and the Human Genome Project
    • Durfy SJ. Ethics and the Human Genome Project. Arch Pathol Lab Med 1993;117:466-9.
    • (1993) Arch Pathol Lab Med , vol.117 , pp. 466-469
    • Durfy, S.J.1
  • 101
    • 0030601531 scopus 로고    scopus 로고
    • The genome project's conscience
    • Marshall E. The genome project's conscience. (News). Science 1996;274:488-90.
    • (1996) Science , vol.274 , pp. 488-490
    • Marshall, E.1
  • 103
    • 0027209049 scopus 로고
    • Molecular genetics: Introduction
    • Grody WW. Molecular genetics: introduction. Arch Pathol Lab Med 1993;117:470-2.
    • (1993) Arch Pathol Lab Med , vol.117 , pp. 470-472
    • Grody, W.W.1


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