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Index Accuracy of DNA sequencing, 65-67 Administrative Agency, 97-98 Alleles, 41, 42, 78, 105 Alzheimer's disease, 5, 20, 22, 27, 28 American Type Culture Collection, 76, 81 Amino acid sequences, 31, 32 Automation applications in sequencing, 7, 67-68, 70, 72 Autosomes, 16 Beta-globin DNA sequence, 21 Biology, basic, implications of human genome maps, 22-23, 29-32 California Institute of Technology, 67-68, 92 Cancer, 5, 27, 28-29, 45 cDNA, see Complementary DNA (cDNA) Cell Bank (Camden, New Jersey), 76-77 Cell growth stimulators, 29 Cellular enzymes, 19 Centre d'Etude du Polymorphisme Humain Computers (CEPH), 42, 76, 79, 80, 92, 54 Chemical sequencing, 60, 62, 64 Chromosomes banding, 35, 45 definition, 13, 16, 105 functional segments, 29-30 maps, 34, SO recognition by light microscopy, 35 ~3 separation technology, 46-47 Cleavage sites of restriction enzymes, 37, 74 Clone, definition, 105 Cloning automation of, 72 techniques, 47-50 vectors, 6, 39, 47 Codons, 66 definition, 105 usage patterns, 31, 58 see also Stop codons Colon cancer, 28 Commercial and legal implications of human genome project, 99-100 Comparative sequence analysis, 73 Complementary DNA (cDNA) clones, 49, 50 definition, 105 mapping, 19, 38, 39, 52 sequencing, 57-68 for genetic linkage mapping, 43 for data collection, storage, and dissemination, 23 use for detecting genes, 31 Confidentiality of genetic material contributors, 100 Connectivity in maps, 30-40, 43, 51-52 Copyright of human genome sequences, 99

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114 Cosmid Cost definition 106 as DNA clone vector, 39, 47 of connected map with 1-cM resolution, 52 of human genome project, 9, 90-91 of information center, 85 of materials storage and distribution center, 82 of sequencing nucleotides, 68 see also Funding for human genome project Crossing over, 37-38, 41, 42, 106 Cystic fibrosis, 5, 20, 27, 37, 44 Cytogenetic bands, 34. 37, 40, 45, 50q 51 Cytogenetics, 106 Cytological mapping using light microscopy, 35-36, 45 Cytometry, flow 47 Data base for human genome project, 80- 81, 82-85 Data centers, 3, 8. 10, 76, 89 Deletion of DNA segments, 26, 29 Department of Energy (DOE), 10. 93. 94- 95, 96 Diabetes, 27 Diploid genome, 16 Disease genes, 26-29, 38. 44, 58 Disease phenotypes, 77-78 Disease research, 26-29, 43-45 DOE, see Department of Energy (DOE) Double helix DNA, 14, 16, 17 Down syndrome, 35 Drosophila, 7, 22, 35, 43, 58, 59, 82, 92 Duchenne muscular dystrophy, 20, 26 Duplication of DNA segments, 29 DuPont, 67-68 Egg cells, genetic exchange, 37-38, 41, 42 Electrophoresis, 45-46. 62 66. 68, 106 EMBL. see European Molecular Biology Laboratory (EMBL) Environmental mutagens, 29 Enzymatic sequencing, 60, 61-62, 63, 70 Errors in DNA sequencing, 65-67 Esche~ichia coli, 22, 35, 46, 47, 49. 51, 82, 87 Ethical implications of human genome project, 100-103 INDEX European Molecular Biology Laboratory (EMBL), 67-68, 76, 77, 92; see also GenBank/EMBL Evolution, 30, 31, 32, 56, 58 Exons, 13, 16, 31, 32, 49, 58. 60, 66, 106 Exonucleases, 61 Fingerprinting, 47-48, 49, 51-52 Flow cytometry, 47 Fuji, 68 Functional segments of chromosomes, 29- 30 Funding for human genome project, 3, 9, 87-92, 96; see also Cost GenBank, 56, 76. 92 GenBank/EMBL, 76, 77, 83, 85 Genetic analysis. 37 of Mendelian disorders, 27 Genetic counseling, 34, 43 Genetic disorders, 22, 28, 34 Genetic exchange, 37-38, 41, 42 Genetic linkage mapping, 2, 3-6, 19, 36, ~ 37-45,51,106 Genetic markers, 38, 41 Genes definition, 13, 106 exon-intron structure, 13-16, 18, 32 identification of new, 27. 31, 39 sizes of human genes, 17 Grants for human genome project, 87, 88 Granulomatous disease, 26 Growth related genes, mutation of, 28 Haploid genome, 39 Heart disease, 45 Hemophilia, 26 Hereditary diseases, 5, 26-29, 43, 44 Heterozygosity, 41, 42, 56, 66 HGML, see Human Gene Mapping Library (HGML) Histocompatibility antigens, 60 Hitachi, 68 Homologies of genes, 31, 58 Human Gene Mapping Library (HGML), 76, 78-79, 81 Huntington's disease, 5, 22, 27, 37, 44 Hypercholesterolemia, 26 Hypertension, 27 Impact of human genome project, on research by small groups, 23-24

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INDEX implementation and management of human genome project, 8-11, 86-98 Information centers, 3, 8, 10, 85, 89 collection, analysis, and distribution, 8, 75-85 inheritance; and genetic linkage maps, 37, 43 Inherited diseases, 5, 26-29, 43, 44 Interagency Committee, 93-94, 96-98 intermediary metabolism, 27 International cooperation, 3, 11, 35-36, 42, 80, 92-93, 95 Introns, 16, 17, 19, 49, 50, 106 Japan, 68 Johns Hopkins University, 78 Kidney tumors, 28 Laboratories, 87-88 Linkage mapping, see Genetic linkage mapping Linking probes. 46 Lister Hill National Center for Biomedical Communications, 78 Lymphoblastoid cells, 80 Lymphokines, 31 Malignant melanoma, 28 Management of human genome project, 9- 11, 93-98 Manic-depressive illness, 5~ 22 Mapping, 19-20, 34-55; see awls`> Genetic linkage mapping; Physical mapping Materials centers, 3, 8, 10, 76, 81-82, 89 Medical implications of human genome maps, 22, 26-29, 101-102 Mendelian disorders, genetic analysis of, 27 Mendelian inheritance in Man (MIM), 76. 77-78, 81 Mental retardation, 27 Messenger RNA (mRNA), 17, 18q 19, 38, 49, 50 Metastasis genes, 29 MIM, see Mendelian Inheritance in Man (MIM) Mouse, 7, 22, 58, 82 mRNA, see Messenger RNA (mRNA) Multigenic disorders, 27, 45 ~5 Multiplex sequencing, 68 Mutant gene encoding, 27 National Institutes of Health (NIH), 10, 89, 93. 94~ 96 National Science Foundation (NSF), 10, 93. 94, 96 National Supercomputer Network. 84 Natural selection, 30 Nematode, 7, 22, 48, 49, 59, 82, 92 Neural tube defects, 27 Neurofibromatosis, 20, 27 Neurotransmitters, 31 N1H, see National Institutes of Health (NIH) NSF' see National Science Foundation (NSF) Nucleic-acid hybridization, 46 Oligonucleotide. 68. 106 Oncogenes, 29 Open reading frames, 31, 58, 106 Ordered DNA clone collections, 2, 5, 6. 12~ 19, 27. 39, 46. 47, 48-50, 52. 81 Organization plans for human genome project, 93-98 Patents for new materials, 99 Peer review of projects, 2, 3. 8. 11, 89. 95 96 Physical mapping, 2, 3-6, 19, 30. 36. 37 40, 45-50; see cllso Complementary DNA mapping Point mutation of DNA segments, 26 Polyacrylamide gel electrophoresis, 62, 68 Polycystic kidney disease, 27 Polymerase, 61 Polymorphism, 41, 44, 60, 106 Prenatal diagnosis, 28, 102-103 President's Commission for the Study of Ethical Problems and Biomedical and Behavioral Research, 103 Private funding for human genome project, 89, 96 Protein kineses, 31 Protein products of disease genes, 26, 27 Protein structure and function, 31-32 Publication of project reports, 11, 95 Pulse field gel electrophoresis. 45-46 Quality control, 3, 7-8, 11, 73, 95

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116 Rearrangement of DNA segments, 26, 29 Recombinant DNA technology, 59 application to genome mapping, 12, 36 use for gene cloning, 26, 36 Recombination, definition, 106 Reference pedigrees, 44 Regulatory signals of gene expression, 32 Resolution of maps, 19, 39-40, 42-43, 45, 47, 51 Restriction enzymes cleavage sites, 37, 74 lack of, 45 mapping by, 20, 46, 47 Restriction fragment length polymorphisms, see RFLPs Restriction sites, 49 and disease identification, 27 mapping, 5, 45, 46, 52 and RFLPs, 41 Retinitis pigmentosa, 27 Retinoblastoma, 26, 28 Reverse transcription, 38, 49, 107 RFLPs definition, 5, 20, 41, 106 and disease identification, 27, 44 and genetic linkage mapping, 40-41, 42, 49, 52, 76, 80, 81, 86, 89, 91, 92 international mapping effort, 79 interrelation of physical and genetic linkage maps, 43 reference map, 44 Robotics application in sequencing, 7, 68, 72 l\DEX Schizophrenia, 27, 45 Scientific Advisory Board, 3, 11, 90, 91, 93, 94-98 Seiko, 68 Sequencing of human genome, 6-8, 32, 56-74, 85 Sickle-cell anemia, 26 Sizes of human genes, 17 Societal implications of human genome project, 99-103 Somatic cell, 5, 28, 29, 107 Sperm cells, genetic exchange, 37-38, 41, 42 Stock centers, see Materials centers Stop codons, 31, 106 T-cell receptor genes, 60 Tay-Sachs disease, 26 Technological developments from human genome project, 23 Thalassemia, 26 Variable number tandem repeats, see VNTRs Virus genomes, 34, 39 VNTRs, 41 Yale University, 78 Yeast, 7, 22, 39, 48, 49, 59, 82, 92