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The Human Genome Project and the Future of Medicine

The Human Genome Project and the Future of Medicine Abstract • The Human Genome Project is an international research effort the goal of which is to analyze the structure of human DNA and to determine the location of the estimated 100 000 human genes. Another component of the program is to analyze the DNA of a set of nonhuman model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990. In this report, we summarize the rapid progress that has already been made; the impact that the resources already developed by the Human Genome Project have had on the ability of investigators to identify and isolate human genes, particularly those associated with disease; and the promise that the project offers for profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk. (AJDC. 1993;147:1145-1152) References 1. Ponder BAJ. Inherited predisposition to cancer . Trends Genet . 1990;6: 213-218.Crossref 2. Chien KR. Molecular advances in cardiovascular biology . Science . 1993;260:916-917.Crossref 3. Fajans S. Maturity-onset diabetes of the young (MODY) . Diabetes Metab Rev . 1989;7:579-606.Crossref 4. Todd JA. Diabetes mellitus . Curr Opin Genet Dev . 1992;2:474-478.Crossref 5. Vance JM. Hereditary motor and sensory neuropathies . J Med Genet . 1991;28:1-5.Crossref 6. Sadovnick AD. Familial recurrence risks and inheritance of multiple sclerosis . Curr Opin Neurol Neurosurg . 1993;6:184-194. 7. Blankenhorn EP, Stranford SA. Genetic factors in demyelinating diseases: genes that control demyelination due to experimental allergic encephalomyelitis (EAE) and Theiler's murine encephalitis virus . Reg Immunol . 1992;4:331-343. 8. Bach JF, Caillat-Zucman S. Genetics of autoimmune endocrine diseases . Springer Semin Immunopathol . 1993;14:239-252. 9. Schurr E, Buschman E, Malo D, Gros P, Skamene E. Immunogenetics of mycobacterial infections: mouse-human homologies . J Infect Dis . 1990; 161:634-639.Crossref 10. Wilson GN. Human congenital anomalies: application of new genetic tools and concepts . Semin Perinatol . 1992;16:385-400. 11. Brodeur GM, Saylor RL III. Neuroblastoma, retinoblastoma, and brain tumors in children . Curr Opin Oncol . 1991:3:485-496.Crossref 12. van Heyningen V, Hastie ND. Wilms' tumor: reconciling genetics and biology . Trends Genet . 1992;8:16-21.Crossref 13. Watson JD. The Human Genome Project: past, present, and future . Science . 1990;248:44-51.Crossref 14. Understanding Our Genetic Inheritance: The U.S. Human Genome Project: The First Five Years . Bethesda, MD: National Institutes of Health; 1990. Publication 90-1590. 15. National Research Council. Mapping and Sequencing the Human Genome . Washington, DC: National Academy Press; 1988. 16. Mange AP, Mange EJ. Genetics: Human Aspects . 2nd ed. Sunderland, Mass: Sinauer Associates Inc; 1990. 17. O'Brien S, ed. Genetic Maps. 5th ed. Cold Spring Harbor , NY: Cold Spring Harbor Laboratory Press; 1990. 18. Botstein D, White RL, Scolnick M, Davis RW. Construction of a genetic linkage map in man using restriction length polymorphisms . Am J Hum Genet . 1980;32:314-331. 19. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies . Am J Hum Genet . 1974;26:588-597. 20. Lander ES, Green P. Construction of multilocus genetic linkage maps in humans . Proc Natl Acad Sci U S A . 1987;84:2363-2367.Crossref 21. Lathrop GM, Lalouel J-M, Julier C, Ott J. Strategies for multilocus linkage analysis in humans . Proc Natl Acad Sci U S A . 1984;81:3443-3446.Crossref 22. Dausset J, Cahn H, Cohen D, Lathrop M, Lalouel J-M, White R. Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome . Genomics . 1990;6:575-577.Crossref 23. Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome . Cell . 1987;51:319-337.Crossref 24. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction . Am J Hum Genet . 1989;44:388-396. 25. Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene . Am J Hum Genet . 1989;44:397-401. 26. Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction . Cold Spring Harbor Symp Quant Biol . 1986;51:263-273.Crossref 27. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome . Science . 1992;258:67-86.Crossref 28. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome . Nature . 1992;359:794-801.Crossref 29. Foote S, Vollrath D, Hilton A, Page D. The human Y chromosome: overlapping DNA clones spanning the euchromatic region . Science . 1992; 258:60-66.Crossref 30. Chumakov I, Rigault P, Guillou S, et al. Continuum of overlapping clones spanning the entire human chromosome 21 q . Nature . 1992;359:380-387.Crossref 31. Bellanné-Chantelot C, Lacroix B, Ougen P, et al. Mapping the whole human genome by fingerprinting yeast artificial chromosomes . Cell . 1992; 70:1059-1068.Crossref 32. Sulston J, Du Z, Thomas K. The C. elegans genome sequencing project: a beginning . Nature . 1992;356:37-41.Crossref 33. Huth-Fehre T, Gosine JN, Wu KJ, Becker CH. Matrix-assisted laser desorption mass spectrometry of oligodeoxythymidylic acids . Rapid Commun Mass Spectrom . 1992;6:209-213.Crossref 34. Parr GR, Fitzgerald MC, Smith LM. Matrix-assisted laser desorption/ionization mass spectrometry of synthetic oligodeoxyribonucleotides . Rapid Commun Mass Spectrom . 1992;6:369-372.Crossref 35. Strezoska Z, Paunesku T, Rodasavljevic D, Labat I, Drmanac R, Crkvenjakov R. DNA sequencing by hybridization: 100 bases read by a non-gel-based method . Proc Natl Acad Sci U S A . 1991;88:10089-10093.Crossref 36. Khrapko KR, Lysov YuP, Khorlin AA, et al. A method for DNA sequencing by hybridization with oligonucleotide matrix . DNA Seq . 1991; 1:375-388. 37. Daniels DL, Plunkett G, Burland VD, Blattner FR. Analysis of the Escherichia coli genome: DNA sequence of the region from 84.5 to 86.5 minutes . Science . 1992;257:771-778.Crossref 38. Oliver SG, van der Aart QJM, Agostoni-Carbone ML, et al. The complete DNA sequence of yeast chromosome III . Nature . 1992;357:38-46.Crossref 39. Collins FS. Positional cloning: let's not call it reverse anymore . Nature Genet . 1992;1:3-6.Crossref 40. Meitinger T, Huy B, Petit C, et al. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232 . Am J Hum Genet . 1990;47:664-669. 41. Franco B, Guioli S, Pragliola S, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules . Nature . 1991;353:529-535.Crossref 42. Legouis R, Hardelin J-P, Levillers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules . Cell . 1991;67:423-435.Crossref 43. Warren ST, Zhang F, Licameli GR, Peters JF. The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites . Science . 1987;237:420-423.Crossref 44. Kremer EJ, Pritchard M, Lynch M, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence of p(CCG)n . Science . 1991; 252:1711-1714.Crossref 45. Fu Y-H, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox . Cell . 1991;67:1-20.Crossref 46. 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;65:905-914.Crossref 47. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy . Nature . 1991;352:77-79.Crossref 48. Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem . Am J Hum Genet . 1992; 51:10-16. 49. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member . Cell . 1992;68:799-808.Crossref 50. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene . Science . 1992;255:1253-1255.Crossref 51. Fu Y-H, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy . Science . 1992;255:1256-1258.Crossref 52. Harley HG, Brook JC, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy . Nature . 1992;355: 545-546.Crossref 53. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy . Nature . 1992;355:546-548.Crossref 54. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect . Nature . 1992;355:548-551.Crossref 55. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes . Cell . 1993;72:971-983.Crossref 56. Djabali M, Selleri L, Parry P, Bower M, Young BD, Evans GA. A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias . Nature Genet . 1992;2:113-118.Crossref 57. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotropic lateral sclerosis . Nature . 1993;362:59-62.Crossref 58. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 . Nature Genet . 1992:1:246-250.Crossref 59. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene . Nature Genet . 1993;3:202-207.Crossref 60. Kajiwara K, Sandberg MA, Berson EL, Dryja T. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens . Nature Genet . 1993;3:208-212.Crossref 61. Wells J, Wrobleroski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy . Nature Genet . 1993;3:213-218.Crossref 62. Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar rhabdomyosarcoma . Nature Genet . 1993;3:113-117.Crossref 63. Troffater JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor . Cell . 1993;72:791-800.Crossref 64. Rouleau GA, Merel P, Lutchman M. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 . Nature . 1993;363:515-521.Crossref 65. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase . Nature Genet . 1993;3:7-13.Crossref 66. Chelly J, Tümer Z, Tønneson T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein . Nature Genet . 1993;3:14-19.Crossref 67. Mercer JFB, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning . Nature Genet . 1993;3:20-25.Crossref 68. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene . Science . 1993;260:1317-1320.Crossref 69. Mosser J, Douar A-M, Sarde C-O, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters . Nature . 1993;361:726-730.Crossref 70. Hall JM, Lee MK, Morrow J, et al. Linkage of early-onset familial breast cancer to chromosome 17q21 . Science . 1990;250:1684-1689.Crossref 71. Peltomäki P, Aaltonen, LA, Sistonen P et al. Genetic mapping of a locus predisposing to human colorectal cancer . Science . 1993;260:810-812.Crossref 72. Dixon MJ, Dixon J, Houseal T, et al. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1 . Am J Hum Genet . 1993;52:907-914. 73. St George-Hyslop P, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 . Nature Genet . 1992;2:330-334.Crossref 74. Van Broeckhaven C, Backhoevens H, Cruts M, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3 . Nature Genet . 1992;2:335-339.Crossref 75. Duyk G, Gastier JM, Mueller RF. Traces of her workings . Nature Genet . 1992;2:5-8.Crossref 76. Bell GI, Xiang K-S, Newman MV et al. Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q . Proc Natl Acad Sci U S A . 1991;88:1484-1488.Crossref 77. Froguel P, Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus . Nature . 1992;356:162-164.Crossref 78. Vionnet N, Stoffel M, Takeda J, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus . Nature . 1992;356:721-722.Crossref 79. Jacob HJ, Lindpaintner K, Lincoln SE, et al. Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat . Cell . 1991;67:213-224.Crossref 80. Jacob HJ, Pettersson A, Wilson D, Mao Y, Lernmark Å, Lander E. Genetic dissection of autoimmune type I diabetes in the BB rat . Nature Genet . 1992;2:56-60.Crossref 81. Todd JA, Aitman TJ, Cornall RJ, et al. Genetic analysis of autoimmune type I diabetes mellitus in mice . Nature . 1991;351:542-547.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

The Human Genome Project and the Future of Medicine

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American Medical Association
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Copyright © 1993 American Medical Association. All Rights Reserved.
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0002-922X
DOI
10.1001/archpedi.1993.02160350019003
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Abstract

Abstract • The Human Genome Project is an international research effort the goal of which is to analyze the structure of human DNA and to determine the location of the estimated 100 000 human genes. Another component of the program is to analyze the DNA of a set of nonhuman model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990. In this report, we summarize the rapid progress that has already been made; the impact that the resources already developed by the Human Genome Project have had on the ability of investigators to identify and isolate human genes, particularly those associated with disease; and the promise that the project offers for profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk. (AJDC. 1993;147:1145-1152) References 1. Ponder BAJ. Inherited predisposition to cancer . Trends Genet . 1990;6: 213-218.Crossref 2. Chien KR. Molecular advances in cardiovascular biology . Science . 1993;260:916-917.Crossref 3. Fajans S. Maturity-onset diabetes of the young (MODY) . Diabetes Metab Rev . 1989;7:579-606.Crossref 4. Todd JA. Diabetes mellitus . Curr Opin Genet Dev . 1992;2:474-478.Crossref 5. Vance JM. Hereditary motor and sensory neuropathies . J Med Genet . 1991;28:1-5.Crossref 6. Sadovnick AD. Familial recurrence risks and inheritance of multiple sclerosis . Curr Opin Neurol Neurosurg . 1993;6:184-194. 7. Blankenhorn EP, Stranford SA. Genetic factors in demyelinating diseases: genes that control demyelination due to experimental allergic encephalomyelitis (EAE) and Theiler's murine encephalitis virus . Reg Immunol . 1992;4:331-343. 8. Bach JF, Caillat-Zucman S. Genetics of autoimmune endocrine diseases . Springer Semin Immunopathol . 1993;14:239-252. 9. Schurr E, Buschman E, Malo D, Gros P, Skamene E. Immunogenetics of mycobacterial infections: mouse-human homologies . J Infect Dis . 1990; 161:634-639.Crossref 10. Wilson GN. Human congenital anomalies: application of new genetic tools and concepts . Semin Perinatol . 1992;16:385-400. 11. Brodeur GM, Saylor RL III. Neuroblastoma, retinoblastoma, and brain tumors in children . Curr Opin Oncol . 1991:3:485-496.Crossref 12. van Heyningen V, Hastie ND. Wilms' tumor: reconciling genetics and biology . Trends Genet . 1992;8:16-21.Crossref 13. Watson JD. The Human Genome Project: past, present, and future . Science . 1990;248:44-51.Crossref 14. Understanding Our Genetic Inheritance: The U.S. Human Genome Project: The First Five Years . Bethesda, MD: National Institutes of Health; 1990. Publication 90-1590. 15. National Research Council. Mapping and Sequencing the Human Genome . Washington, DC: National Academy Press; 1988. 16. Mange AP, Mange EJ. Genetics: Human Aspects . 2nd ed. Sunderland, Mass: Sinauer Associates Inc; 1990. 17. O'Brien S, ed. Genetic Maps. 5th ed. Cold Spring Harbor , NY: Cold Spring Harbor Laboratory Press; 1990. 18. Botstein D, White RL, Scolnick M, Davis RW. Construction of a genetic linkage map in man using restriction length polymorphisms . Am J Hum Genet . 1980;32:314-331. 19. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies . Am J Hum Genet . 1974;26:588-597. 20. Lander ES, Green P. Construction of multilocus genetic linkage maps in humans . Proc Natl Acad Sci U S A . 1987;84:2363-2367.Crossref 21. Lathrop GM, Lalouel J-M, Julier C, Ott J. Strategies for multilocus linkage analysis in humans . Proc Natl Acad Sci U S A . 1984;81:3443-3446.Crossref 22. Dausset J, Cahn H, Cohen D, Lathrop M, Lalouel J-M, White R. Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome . Genomics . 1990;6:575-577.Crossref 23. Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome . Cell . 1987;51:319-337.Crossref 24. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction . Am J Hum Genet . 1989;44:388-396. 25. Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene . Am J Hum Genet . 1989;44:397-401. 26. Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction . Cold Spring Harbor Symp Quant Biol . 1986;51:263-273.Crossref 27. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome . Science . 1992;258:67-86.Crossref 28. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome . Nature . 1992;359:794-801.Crossref 29. Foote S, Vollrath D, Hilton A, Page D. The human Y chromosome: overlapping DNA clones spanning the euchromatic region . Science . 1992; 258:60-66.Crossref 30. Chumakov I, Rigault P, Guillou S, et al. Continuum of overlapping clones spanning the entire human chromosome 21 q . Nature . 1992;359:380-387.Crossref 31. Bellanné-Chantelot C, Lacroix B, Ougen P, et al. Mapping the whole human genome by fingerprinting yeast artificial chromosomes . Cell . 1992; 70:1059-1068.Crossref 32. Sulston J, Du Z, Thomas K. The C. elegans genome sequencing project: a beginning . Nature . 1992;356:37-41.Crossref 33. Huth-Fehre T, Gosine JN, Wu KJ, Becker CH. Matrix-assisted laser desorption mass spectrometry of oligodeoxythymidylic acids . Rapid Commun Mass Spectrom . 1992;6:209-213.Crossref 34. Parr GR, Fitzgerald MC, Smith LM. Matrix-assisted laser desorption/ionization mass spectrometry of synthetic oligodeoxyribonucleotides . Rapid Commun Mass Spectrom . 1992;6:369-372.Crossref 35. Strezoska Z, Paunesku T, Rodasavljevic D, Labat I, Drmanac R, Crkvenjakov R. DNA sequencing by hybridization: 100 bases read by a non-gel-based method . Proc Natl Acad Sci U S A . 1991;88:10089-10093.Crossref 36. Khrapko KR, Lysov YuP, Khorlin AA, et al. A method for DNA sequencing by hybridization with oligonucleotide matrix . DNA Seq . 1991; 1:375-388. 37. Daniels DL, Plunkett G, Burland VD, Blattner FR. Analysis of the Escherichia coli genome: DNA sequence of the region from 84.5 to 86.5 minutes . Science . 1992;257:771-778.Crossref 38. Oliver SG, van der Aart QJM, Agostoni-Carbone ML, et al. The complete DNA sequence of yeast chromosome III . Nature . 1992;357:38-46.Crossref 39. Collins FS. Positional cloning: let's not call it reverse anymore . Nature Genet . 1992;1:3-6.Crossref 40. Meitinger T, Huy B, Petit C, et al. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232 . Am J Hum Genet . 1990;47:664-669. 41. Franco B, Guioli S, Pragliola S, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules . Nature . 1991;353:529-535.Crossref 42. Legouis R, Hardelin J-P, Levillers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules . Cell . 1991;67:423-435.Crossref 43. Warren ST, Zhang F, Licameli GR, Peters JF. The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites . Science . 1987;237:420-423.Crossref 44. Kremer EJ, Pritchard M, Lynch M, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence of p(CCG)n . Science . 1991; 252:1711-1714.Crossref 45. Fu Y-H, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox . Cell . 1991;67:1-20.Crossref 46. 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;65:905-914.Crossref 47. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy . Nature . 1991;352:77-79.Crossref 48. Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem . Am J Hum Genet . 1992; 51:10-16. 49. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member . Cell . 1992;68:799-808.Crossref 50. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene . Science . 1992;255:1253-1255.Crossref 51. Fu Y-H, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy . Science . 1992;255:1256-1258.Crossref 52. Harley HG, Brook JC, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy . Nature . 1992;355: 545-546.Crossref 53. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy . Nature . 1992;355:546-548.Crossref 54. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect . Nature . 1992;355:548-551.Crossref 55. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes . Cell . 1993;72:971-983.Crossref 56. Djabali M, Selleri L, Parry P, Bower M, Young BD, Evans GA. A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias . Nature Genet . 1992;2:113-118.Crossref 57. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotropic lateral sclerosis . Nature . 1993;362:59-62.Crossref 58. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 . Nature Genet . 1992:1:246-250.Crossref 59. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene . Nature Genet . 1993;3:202-207.Crossref 60. Kajiwara K, Sandberg MA, Berson EL, Dryja T. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens . Nature Genet . 1993;3:208-212.Crossref 61. Wells J, Wrobleroski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy . Nature Genet . 1993;3:213-218.Crossref 62. Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar rhabdomyosarcoma . Nature Genet . 1993;3:113-117.Crossref 63. Troffater JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor . Cell . 1993;72:791-800.Crossref 64. Rouleau GA, Merel P, Lutchman M. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 . Nature . 1993;363:515-521.Crossref 65. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase . Nature Genet . 1993;3:7-13.Crossref 66. Chelly J, Tümer Z, Tønneson T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein . Nature Genet . 1993;3:14-19.Crossref 67. Mercer JFB, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning . Nature Genet . 1993;3:20-25.Crossref 68. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene . Science . 1993;260:1317-1320.Crossref 69. Mosser J, Douar A-M, Sarde C-O, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters . Nature . 1993;361:726-730.Crossref 70. Hall JM, Lee MK, Morrow J, et al. Linkage of early-onset familial breast cancer to chromosome 17q21 . Science . 1990;250:1684-1689.Crossref 71. Peltomäki P, Aaltonen, LA, Sistonen P et al. Genetic mapping of a locus predisposing to human colorectal cancer . 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Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Nov 1, 1993

References