Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease

  • Thomas B. Shows
  • Alan Y. Sakaguchi
  • Susan L. Naylor


It is estimated that the human haploid genome is composed of 3 × 109 nucleotides and that only 10% of it consists of coding and regulatory sequences.14 If a gene is approximately 104 nucleotides in length, which includes the coding region and the intervening and flanking sequences, this estimate would predict that there are about 3–10 × 104 human genes coding for different protein products. Since gene clustering in humans has become evident (for example, the hemoglobin, immunoglobin, and HLA clusters), these estimated gene products may be grouped in from 3000 to 15,000 clusters.15 Further, based upon genetic and molecular studies of microorganisms, Drosophila, and the mouse, there are perhaps 5 × 104 structural genes estimated in humans,14,106,183 which is in agreement with the number of estimated protein products in the human genome. Mapping the human genome involves partitioning the total number of genes into individual maps representing the 24 different human nuclear chromosomes and linearly ordering them on each chromosome. A similar exercise has mapped the 37 genes encoded in the DNA of the mitochondrial genome.2


Human Chromosome Cell Hybrid Congenital Adrenal Hyperplasia Adenosine Deaminase Globin Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Amos, D. B., and Kostyu, D. D., 1980, HLA—A central immunological agency of man, in: Advances in Human Genetics, Vol. 10 (H. Harris and K. Hirschhorn, eds.), pp. 137–208, Plenum Press, New York.Google Scholar
  2. 2.
    Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, E., Schreier, P. H., Smith, A. J. H., Staden, R., and Young, I. G., 1981, Sequence and organization of the human mitochondrial genome, Nature 290: 457–465.PubMedCrossRefGoogle Scholar
  3. 3.
    Baglioni, C., 1962, The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion, Proc. Nat. Acad. Sci. 48: 1880–1886.PubMedCrossRefGoogle Scholar
  4. 4.
    Barg, R., Barton, R., Caine, A., Clements, R. L., Ferguson-Smith, M. A., Malcolm, S., Morrison, H., and Murphy, C. S., 1982, Regional localization of human α-globin gene to the short arm of chromosome 16 (16p12→pter) using both somatic cell hybrids and in situ hybridization, Cytogenet. Cell Genet, in press.Google Scholar
  5. 5.
    Barker, D., and White, R., 1982, More base pair change polymorphisms at sites containing CpG, Cytogenet. Cell Genet, in press.Google Scholar
  6. 6.
    Barrie, P. A., Jeffreys, A. J., and Scott, A. F., 1981. Evolution of the β-globin gene cluster in man and the primates, J. Mol. Biol. 149: 319–336.PubMedCrossRefGoogle Scholar
  7. 7.
    Bell, G. I., Pictet, R. L., Rutter, W. J., Cordell, B., Tischer, E., and Goodman, H., 1980, Sequence of the human insulin gene, Nature 284: 26–32.PubMedCrossRefGoogle Scholar
  8. 8.
    Bell, G. I., Karem, J. H., and Rutter, W. J., 1981, A polymorphic DNA region adjacent to the 5´ end of the human insulin gene, Proc. Nat. Acad. Sci. USA 78: 5759–5763.PubMedCrossRefGoogle Scholar
  9. 9.
    Bell, G. I., Selby, M. J., and Rutter, W. J., 1982, Sequence of a highly polymorphic DNA segment in the 5´ flanking region of the human insulin gene, Nature 295: 31–35.PubMedCrossRefGoogle Scholar
  10. 10.
    Bender, K., and Grzeschik, K.-H., 1976, Assignment of the genes for the human glyoxalase I to chromosome 6 and for human esterase D to chromosome 13, Cytogenet. Cell Genet. 16: 93–96.PubMedCrossRefGoogle Scholar
  11. 11.
    Benn, P. A., Shows, T. B., D’Ancona, G. G., Croce, C. M., Orkwiszewski, K. G., and Mellman, W. J., 1979, Assignment of a gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by somatic cell hybridization, Cytogenet. Cell Genet. 24: 138–142.PubMedCrossRefGoogle Scholar
  12. 12.
    Berget, S. M., Moore, C., and Sharp, P. A., 1977, Spliced segments at the 5´ terminus of adenovirus 2 late mRNA, Proc. Nat. Acad. Sci. 74: 3171–3175.PubMedCrossRefGoogle Scholar
  13. 13.
    Biro, P. A., Pereira, D., Sood, A. K., de Martinville, B., Francke, U., and Weissman, S. M., 1981, The structure of the human major histocompatibility locus, J. Supramolec. Struct., in press.Google Scholar
  14. 14.
    Bishop, J. O., 1974, The gene numbers game, Cell 2: 81–86.PubMedCrossRefGoogle Scholar
  15. 15.
    Bodmer, W. F., 1981, Gene clusters, genome organization, and complex phenotypes, Am. J. Hum. Genet. 33: 664–682.PubMedGoogle Scholar
  16. 16.
    Bolivar, F., 1978, Construction and characterization of new cloning vehicles: III. Derivatives of plasmid pBR322 carrying unique EcoRI sites for selection of EcoRI generated recombinant DNA molecules, Gene 4: 121–136.PubMedCrossRefGoogle Scholar
  17. 17.
    Borst, P., and Grivell, L. A., 1981, One gene’s intron is another gene’s exon, Nature 289: 439–440.PubMedCrossRefGoogle Scholar
  18. 18.
    Botchan, M., Topp, W., and Sambrook, J., 1976, The arrangement of simian virus 40 sequences in the DNA of transformed cells, Cell 9: 269–287.PubMedCrossRefGoogle Scholar
  19. 19.
    Botstein, D., White, R. L., Skolnick, M., and Davis, R. W., 1980, Construction of a genetic linkage map in man using restriction fragment length polymorphisms, Am. J. Hum. Genet. 32: 314–331.PubMedGoogle Scholar
  20. 20.
    Brack, C., and Tonegawa, S., 1977, Variable and constant parts of the immunoglobulin light chain gene of a mouse myeloma cell are 1250 nontranslated bases apart, Proc. Nat. Acad. Sci. USA 74: 5652–5656.PubMedCrossRefGoogle Scholar
  21. 21.
    Brewer, G. J., 1967, Achromatic regions of tetrazolium stained starch gels: Inherited electrophoretic variation, Am. J. Hum. Genet. 19: 674–680.PubMedGoogle Scholar
  22. 22.
    Bruns, G., Gusella, J., Keys, C., Housman, D., and Gerald, P., 1982, Isolation of “unique sequence” DNA segments from the human X, Cytogenet. Cell Genet., in press.Google Scholar
  23. 23.
    Carrano, A. V., Gray, J. W., Langlois, R. G., Burkhart-Schultz, K. J., and Van Dilla, M. A., 1979, Measurement and purification of human chromosomes by flow cytometry and sorting, Proc. Nat. Acad. Sci. USA 76: 1382–1384.PubMedCrossRefGoogle Scholar
  24. 24.
    Champion, M. J., and Shows, T. B., 1977, Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines, Am. J. Hum. Genet. 29: 149–163.PubMedGoogle Scholar
  25. 25.
    Champion, M. J., and Shows, T. B., 1977, Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids, Nature 270: 64–66.PubMedCrossRefGoogle Scholar
  26. 26.
    Champion, M. J., and Shows, T. B., 1977, Mannosidosis: Assignment of the lysosomal α-mannosidase B gene to chromosome 19 in man, Proc. Nat. Acad. Sci. 74: 2968–2972.PubMedCrossRefGoogle Scholar
  27. 27.
    Chandler, M. E., Kedes, L. H., Coh, R. H., and Yunis, J. J., 1979, Genes coding for histone proteins in man are located on the distal end of the long arm of chromosome 7, Science 205: 908–910.PubMedCrossRefGoogle Scholar
  28. 28.
    Chen, S. H., Malcom, L. A., Yosida, A., and Giblett, E. R., 1971, Phosphoglycerate kinase: An X-linked polymorphism in man, Am. J. Hum. Genet. 23: 87–91.Google Scholar
  29. 29.
    Collins, J., 1977, Gene cloning with small plasmids, Cun. Top. Microbiol. Immunol. 78: 121–170.CrossRefGoogle Scholar
  30. 30.
    Conneally, P. M., and Rivas, M. L., 1980, Linkage analysis in man, in: Advances in Human Genetics, Vol. 10, (H. Harris and K. Hirschhorn, eds.), pp. 209–266, Plenum Press, New York.Google Scholar
  31. 31.
    Cook, P. J. L., and Hamerton, J. L., 1979, Report of the committee on the genetic constitution of chromosome 1, Cytogenet. Cell Genet. 25: 9–20.PubMedCrossRefGoogle Scholar
  32. 32.
    Coulondre, C., Miller, J. H., Farabaugh, P. J., and Gilbert, W., 1978, Molecular basis of base substitution hotspots in Escherichia coli, Nature 274: 775–780.PubMedCrossRefGoogle Scholar
  33. 33.
    Cox, D. R., Francke, U., and Epstein, C. J., 1981, Assignment of genes to the human X chromosome by the two-dimensional electrophoresis analysis of total cell proteins from rodent-human somatic cell hybrids, Am. J. Hum. Genet. 33: 495–512.PubMedGoogle Scholar
  34. 34.
    Crampton, J. M., Davies, K. E., and Knapp, T. B., 1981, The occurrence of families of repetitive sequences in a library of cloned cDNA from human lymphocytes, Nucleic Acids Res. 9: 3821–3834.PubMedCrossRefGoogle Scholar
  35. 35.
    Crea, R., Kraszewski, A., Hirose, T., and Itakura, K., 1978, Chemical synthesis of genes for human insulin, Proc. Nat. Acad. USA Sci. 75: 5765–5769.CrossRefGoogle Scholar
  36. 36.
    Creagan, R. P., and Ruddle, F. H., 1975, The clone panel: A systematic approach to gene mapping using interspecific somatic cell hybrids, Cytogenet. Cell Genet. 14: 282–286.PubMedCrossRefGoogle Scholar
  37. 37.
    Creagan, R. P., and Ruddle, F. H., 1977, New approaches to human gene mapping by somatic cell genetics, in: Molecular Structure of Human Chromosomes (J. Yunis, ed.), pp. 89–142, Academic Press, New York.Google Scholar
  38. 38.
    Crick, F., 1979, Split genes and RNA splicing, Science 204: 264–271.PubMedCrossRefGoogle Scholar
  39. 39.
    Croce, C. M., Shander, M., Martinis, J., Cecurel, L., D’Ancona, G., Dolby, T. W., and Koprowski, H., 1979, Chromosomal location of the genes for human immunoglobulin heavy chains, Proc. Nat. Acad. Sci. USA 76: 3416–3419.PubMedCrossRefGoogle Scholar
  40. 40.
    Davidson, E. H., and Britten, R. J., 1979, Regulation of gene expression: possible role of repetitive sequences, Science 204: 1052–1059.PubMedCrossRefGoogle Scholar
  41. 41.
    Davidson, R. L., 1974, Gene expression in somatic cell hybrids, Ann. Rev. Genet. 8: 195–218.PubMedCrossRefGoogle Scholar
  42. 42.
    Davies, K. E., Young, B. D., Ellis, R. G., Hill, M. E., and Williamson, R. E., 1981, Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry, Nature 293: 374–376.PubMedCrossRefGoogle Scholar
  43. 43.
    Deeley, R. G., Ucell, D. S., Burns, A. T. H., Gordon, J. I., and Goldberger, R. F., 1977, Kinetics of avian vitellogenin messenger RNA induction, J. Biol. Chem. 252: 7913–7915.PubMedGoogle Scholar
  44. 44.
    de Grouchy, J., Turleau, C., and Finaz, C., 1978, Chromosomal phylogeny of the primates, Ann. Rev. Genet. 12: 289–328.PubMedCrossRefGoogle Scholar
  45. 45.
    Deisseroth, A., Nienhuis, A., Turner, P., Velez, R., Anderson, W. F., Ruddle, F., Lawrence, J., Creagen, R., and Kucherlapati, R., 1977, Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay, Cell 12: 205–218.PubMedCrossRefGoogle Scholar
  46. 46.
    Deisseroth, A., Nienhuis, A., Lawrence, J., Giles, R., Turner, P., and Ruddle, F., 1978, Chromosomal localization of human beta-globin gene on human chromosome 11 in somatic cell hybrids, Proc. Nat. Acad. Sci. USA 75: 1456–1460.PubMedCrossRefGoogle Scholar
  47. 47.
    DeLuca, C., Brown, J. A., and Shows, T. B., 1979, Lysosomal aryl sulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B, Proc. Nat. Acad. Sci. USA 76: 1957–1961.PubMedCrossRefGoogle Scholar
  48. 48.
    de Martinville, B., Leary, J., Ullrich, A., and Francke, U., 1982, The human insulin gene maps on the short arm of chromosome 11, Cytogenet. Cell Genet., in press.Google Scholar
  49. 49.
    de Martinville, B., Wyman, A., White, R., and Francke, U., in press, Assignment of the first highly polymorphic DNA marker locus to a human chromosome region, Cytogenet. Cell Genet.Google Scholar
  50. 50.
    Detter, J. C., Ways, P. O., Giblett, E. R., Baughan, M. A., Hophenson, D. A., Povey, S., and Harris, A., 1968, Inherited variations in human phosphohexose isomerase, Ann. Hum. Genet. 31: 329–338.PubMedCrossRefGoogle Scholar
  51. 51.
    Donahue, R. P., Bias, W. B., Renwick, J. H., and McKusick, V. A., 1968, Probable assignment of the Duffy blood group locus to chromosome 1 in man, Proc. Nat. Acad. Sci. USA 66: 949–952.CrossRefGoogle Scholar
  52. 52.
    Doolittle, R. F., 1981, Similar amino acid sequences: Chance or common ancestry?, Science 214: 149–159.PubMedCrossRefGoogle Scholar
  53. 53.
    Dutrillaux, B., 1979, Chromosomal evolution in primates: Tentative phylogeny from Microcebus murinus (prosimian) to man, Hum. Genet. 48: 251–314.PubMedCrossRefGoogle Scholar
  54. 54.
    Efstratiadis, A., Posakony, J. W., Maniatis, T., Lawn, R. A., O’Connell, C., Spritz, R. A., DeRiel, J. K., Forget, B. G., Weissman, S. M., Slightom, J. L., Bleichl, A. E., Smithies, O., Baralle, F. E., Shoulders, C. C., and Proudfoot, N. J., 1980, The structure and evolution of the human β-globin gene family, Cell 21: 653–668.PubMedCrossRefGoogle Scholar
  55. 55.
    Ege, T., and Ringertz, N. R., 1974, Preparation of microcells by enucleation of micronucleate cells, Exp. Cell Res. 87: 378–382.PubMedCrossRefGoogle Scholar
  56. 56.
    Elsevier, S. M., Kucherlapati, R. S., Nichols, E. A., Creagen, R. P., Giles, R. E., Ruddle, F. H., Willecke, K., and McDougall, J. K., 1974, Assignment of the gene for galactokinase to human chromosome 17 and its regional localization to band q21–22, Nature 21: 633–636.CrossRefGoogle Scholar
  57. 57.
    Evans, H. J., Buckland, R. A., and Pardue, M. L., 1974, Location of the genes coding for 18S and 28S ribosomal RNA in the human genome, Chromosoma 48: 405–426.CrossRefGoogle Scholar
  58. 58.
    Ferguson-Smith, M. A., Newman, B. F., Ellis, P. M., Thomson, M. G., and Riley, I. D., 1973, Assignment by deletion of human red cell and phosphatase gene locus to the short arm of chromosome 2, Nature New Biol. 243: 271–272.PubMedCrossRefGoogle Scholar
  59. 59.
    Ferguson-Smith, M. A., Aitken, D. A., Truleau, C., and de Grouchy, J., 1976, Localization of the human ABO: NP-1AK-1 linkage group by regional assignment of Ak-1 to 9q34, Hum. Genet. 34: 35–43.PubMedCrossRefGoogle Scholar
  60. 60.
    Fiers, W., Contreras, R., Haegeman, G., Rogiers, R., Van de Voorde, A., Van Heuverswyn, H., Van Herreweghe, J., Volckaert, G., and Ysebaert, M., 1978, Complete nucleotide sequence of SV40 DNA, Nature 273: 113–120.PubMedCrossRefGoogle Scholar
  61. 61.
    Fildes, R. A., and Harris, H., 1966, Genetically determined variation of adenylate kinase in man, Nature 209: 261–263.PubMedCrossRefGoogle Scholar
  62. 62.
    Flavell, R. A., Kooter, J. M., and de Boer, E., 1978, Analysis of the β-δ-globin gene loci in normal and Hb Lepore DNA: Direct determination of gene linkage and intergene distance, Cell 15: 25–41.PubMedCrossRefGoogle Scholar
  63. 63.
    Flavell, R. A., Bernards, R., Kooter, J. M., and de Boer, E., 1979, The structure of the human β-globin gene in β-thalassaemia, Nucleic Acids Res. 6: 2749–2760.PubMedCrossRefGoogle Scholar
  64. 64.
    Fournier, R. E. K., and Ruddle, F. H., 1977, Microcell-mediated transfer of murine chromosomes into mouse, Chinese hamster and human somatic cells, Proc. Nat. Acad. Sci. USA 74: 319–323.PubMedCrossRefGoogle Scholar
  65. 65.
    Fournier, R. E. K., and Ruddle, F. H., 1977, Stable association of the human transgenome and host murine chromosomes demonstrated with trispecific microcell hybrids, Proc. Nat. Acad. Sci. USA 74: 3937–3941.PubMedCrossRefGoogle Scholar
  66. 66.
    Francke, U., Lalley, P. A., Moss, W., Ivy, J., and Minna, J. D., 1977, Gene mapping in Mus musculus by interspecific cell hybridization: Assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2, Cytogenet. Cell Genet. 19: 47–84.Google Scholar
  67. 67.
    Francke, U., Holmes, L. B., Atkins, L., and Riccardi, V. M., 1979, Aniridia-Wilms tumor association: Evidence for specific deletion of 11p13, Cytogenet. Cell Genet. 24: 185–192.PubMedCrossRefGoogle Scholar
  68. 68.
    Fritsch, E. F., Lawn, R. M., and Maniatis, T., 1980, Molecular cloning and characterization of the human ß-like globin gene cluster, Cell 19: 959–972.PubMedCrossRefGoogle Scholar
  69. 69.
    Geever, R. F., Wilson, L. B., Nallaseth, F. S., Milner, P. F., Bittner, M., and Wilson, J. T., 1981, Direct identification of sickle cell anemia by blot hybridization, Proc. Nat. Acad. Sci. USA 78: 5081–5085.PubMedCrossRefGoogle Scholar
  70. 70.
    George, D. L., Phillips, J. A. III, Francke, U., and Seeburg, P. H., 1981, The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21→qter, Hum. Genet. 57: 138–141.PubMedCrossRefGoogle Scholar
  71. 71.
    Gerhard, D. S., Kawasaki, E. S., Bancroft, F. C., and Szabo, P., 1981, Localization of a unique gene by direct hybridization in situ, Proc. Nat. Acad. Sci. USA 78: 3755–3759.PubMedCrossRefGoogle Scholar
  72. 72.
    Gilbert, W., 1978, Why genes in pieces?, Nature 271: 501.PubMedCrossRefGoogle Scholar
  73. 73.
    Glover, D. M., and Hogness, D. S., 1977, A novel arrangement of the 18S and 28S sequences in a repeating unit of Drosophila melanogaster rDNA, Cell 10: 167–176.PubMedCrossRefGoogle Scholar
  74. 74.
    Goff, S. P., Gilboa, E., Witte, O. N., and Baltimore, D., 1980, Structure of the Abelson murine leukemia virus genome and the homologous cellular gene: Studies with cloned viral DNA, Cell 22: 777–785.PubMedCrossRefGoogle Scholar
  75. 75.
    Goodfellow, P., Banting, G., Lenz, R., Povey, S., and McMichael, A., 1980, A human X-linked antigen defined by a monoclonal antibody, Som. Cell Genet. 6: 777–788.CrossRefGoogle Scholar
  76. 76.
    Gordon, J. T., Burns, A. T. H., Christmann, J. L., and Deeley, R. C., 1978, Cloning of a double stranded cDNA that codes for a portion of chicken preproalbumin, J. Biol. Chem. 253: 8629–8639.PubMedGoogle Scholar
  77. 77.
    Gosden, J. R., Laurie, S.S., and Cooke, J. H., 1981, A cloned repeated DNA sequence in human chromosome heteromorphisms, Cytogenet. Cell Genet. 29: 32–39.PubMedCrossRefGoogle Scholar
  78. 78.
    Goss, S. J., and Harris, H., 1977, Gene transfer by means of cell fusion I, J. Cell Sci. 25: 17–37.PubMedGoogle Scholar
  79. 79.
    Goss, S. J., and Harris, H., 1977, Gene transfer by means of cell fusion II, J. Cell Sci. 25: 39–58.PubMedGoogle Scholar
  80. 80.
    Grosveld, F. G., Dahl, H.-H. M., de Boer, E., and Flavell, R. A., 1981, Isolation of β-globin-related genes from a human cosmid library, Gene 13: 227–237.PubMedCrossRefGoogle Scholar
  81. 81.
    Gusella, J., Varsanyi-Breiner, A., Kao, F.-T., Jones, C., Puck, T. T., Keys, C., Orkin, S., and Housman, D., 1979, Precise localization of human beta-globin gene complex on chromosome 11, Proc. Nat. Acad. Sci. USA 76: 5239–5243.PubMedCrossRefGoogle Scholar
  82. 82.
    Gusella, J. F., Keys, C., Varsanyi-Breiner, A., Kao, F.-T., Jones, C., Puck, T. T., and Housman, D., 1980. Isolation and localization of DNA segments from specific chromosomes, Proc. Nat. Acad. Sci. USA 77: 2829–2833.PubMedCrossRefGoogle Scholar
  83. 83.
    Haigh, L. S., Anderson, W. F., and Francke, U., 1979, Regional mapping of the β-globin gene (HBB) to 11p, Cytogenet. Cell Genet. 25: 162.Google Scholar
  84. 84.
    Harper, M. E., and Saunders, G. F., 1981, Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization, Chromosoma 83: 431–439.PubMedCrossRefGoogle Scholar
  85. 84a.
    Harper, M. E., and Saunders, G. F., 1981, Chromosomal localization of human insulin gene, placental lactogen-growth hormone genes, and other single copy genes by in situ hybridization, Am. J. Hum. Genet. 33: 105A.Google Scholar
  86. 85.
    Harper, M. E., Ullrich, A., and Saunders, G. F., 1981, Localization of the insulin gene to the distal end of short arm of chromosome 11, Proc. Nat. Acad. Sci. USA 78: 4458–4460.PubMedCrossRefGoogle Scholar
  87. 86.
    Harper, M. E., Barrera-Saldana, H. A., and Saunders G. F., in press, Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22–24, Am. J. Hum. Genet.Google Scholar
  88. 87.
    Harris, H., 1975, The Principles of Human Genetics, 2nd ed., pp. 104–109, North-Holland/American Elsevier, Amsterdam/New York.Google Scholar
  89. 88.
    Harris, H., and Hopkinson, D. A., 1976, Handbook of Enzyme Electrophoresis in Human Genetics, North-Holland, Amsterdam.Google Scholar
  90. 89.
    Henderson, A. S., Warburton, D., and Atwood, K. C., 1972, Location of ribosomal DNA in the human chromosome complement, Proc. Nat. Acad. Sci. USA 69: 3394–3398.PubMedCrossRefGoogle Scholar
  91. 90.
    Higgs, D. R., Goodbourn, S. E. Y., Wainscoat, J. S., Clegg, J. B., and Weatherall, D. J., 1981, Highly variable regions of DNA flank the human α globin genes, Nucleic Acids Res. 9: 4213–4224.PubMedCrossRefGoogle Scholar
  92. 91.
    Honey, N. K., Miller, A. L., and Shows, T. B., 1981, The mucolipidoses: Identification by abnormal electrophoretic patterns of lysosomal hydrolases, Am. J. Med. Genet. 9: 239–253.PubMedCrossRefGoogle Scholar
  93. 92.
    Hoogeveen, A. T., Verheijen, F. W., d’Azzo, A., and Galjaard, H., 1980, Genetic heterogeneity in human neuraminidase deficiency, Nature 285: 500–502.PubMedCrossRefGoogle Scholar
  94. 93.
    Houck, C. M., Rinehart, F. P., and Schmid, C. W., 1979, A ubiquitous family of repeated DNA sequences in the human genome, J. Mol. Biol. 132: 298–306.CrossRefGoogle Scholar
  95. 94.
    Huisman, T. H. J., Wrightstone, R. N., Wilson, J. B., Schroeder, W. A., and Kendall, A. G., 1972, Haemoglobin Kenya, a product of fusion of γ and β polypeptide chains, Arch. Biochem. Biophys. 153: 850–853.PubMedCrossRefGoogle Scholar
  96. 95.
    Human Gene Mapping 1, 1974, Cytogenet. Cell Genet. 13: 1–216.CrossRefGoogle Scholar
  97. 96.
    Human Gene Mapping 2, 1975, Cytogenet. Cell Genet. 14: 163–480.Google Scholar
  98. 97.
    Human Gene Mapping 3, 1976, Cytogenet. Cell Genet. 16: 1–452.CrossRefGoogle Scholar
  99. 98.
    Human Gene Mapping 4, 1978, Cytogenet. Cell Genet. 22: 1–730.CrossRefGoogle Scholar
  100. 99.
    Human Gene Mapping 5, 1979, Cytogenet. Cell Genet. 25: 1–236.CrossRefGoogle Scholar
  101. 100.
    Human Gene Mapping 6, 1982, Cytogenet. Cell Genet., in press.Google Scholar
  102. 101.
    Hunkapiller, M. W., and Hood, L. E., 1980, New protein sequenator with increased sensitivity, Science 207: 523–525.PubMedCrossRefGoogle Scholar
  103. 102.
    Ish-Horowicz, D., and Burke, J. F., 1981, Rapid and efficient cosmid cloning, Nucleic Acids Res. 9: 2989–2998.PubMedCrossRefGoogle Scholar
  104. 103.
    Jeffreys, A. J., 1979, DNA sequence variants in the Ggamma-, Agamma-, delta- and beta-globin genes of man, Cell 18: 1–10.PubMedCrossRefGoogle Scholar
  105. 104.
    Jeffreys, A. J., Craig, I. W., and Francke, U., 1979, Localization of the G-gamma, A-gamma, delta-, and beta-globin genes on the short arm of human chromosome 11, Nature 281: 606–608.PubMedCrossRefGoogle Scholar
  106. 105.
    Johnson, L. D., Henderson, A. S., and Atwood, K. C., 1974, Location of the genes for 5SRNA in the human chromosome complement, Cytogenet. Cell Genet. 13: 103: 105.Google Scholar
  107. 106.
    Judd, B. H., She, M. W., and Kaufman, T. C., 1972, The anatomy and function of a segment of the X chromosome of Drosophila melanogaster, Genetics 71: 139–156.PubMedGoogle Scholar
  108. 107.
    Junien, C., Weil, D., Myers, J. C., Van Cong, N., Chu, M.-L., Foubert, C., Gross, M. S., Prochop, D. J., Kaplan, J. C., and Ramirez, F., 1982, Assignment of the human pro α2(I) collagen structural gene to chromosome 7 by molecular hybridization, Cytogenet. Cell Genet., in press.Google Scholar
  109. 108.
    Kacian, D. L., Spiegelman, S., Bank, A., Terada, M., Metafora, S., Dow, L., and Marks, P. A., 1972, In vitro synthesis of DNA components of human genes for globins, Nature New BioL 235: 167.CrossRefGoogle Scholar
  110. 109.
    Kan, Y. W., and Dozy, A. M., 1978, Polymorphism of DNA sequence adjacent to human α-globin structural gene: Relationship to sickle mutation, Proc. Nat. Acad. Sci. USA 75: 5631–5635.PubMedCrossRefGoogle Scholar
  111. 110.
    Kan, Y. W., and Dozy, A. M., 1978, Antenatal diagnosis of sickle-cell anemia by DNA. analysis of amniotic-fluid cells, Lancet II: 910–911.Google Scholar
  112. 111.
    Kan, Y. W., Lee, K. Y., Furbetta, M., Angius, A., and Cao, A., 1980, Polymorphism of DNA sequence in the ß-globin gene region, New Eng. J. Med. 302: 185–188.PubMedCrossRefGoogle Scholar
  113. 112.
    Kao, F.-T., Jones, C., Puck, T. T., Law, M. L., Gusella, J., Keys, C., Varsanyi-Breiner, A., and Housman, D., 1980, Human DNA segments as genetic markers, Am. J. Hum. Genet. 32: 44A.Google Scholar
  114. 113.
    Kao, F.-T., Hartz, J. A., and Law, M. L., 1981, DNA segment marker for human chromosome 10, J. Cell Biol. 91: 386a.Google Scholar
  115. 114.
    Kao, F.-T., Hartz, J. A., Law, M. L., and Davidson, J. N., 1982, Isolation, characterization and chromosomal localization of DNA segments from a human genomic library in: Abstract book, 6th International Congress of Human Genetics, Israel.Google Scholar
  116. 115.
    Karig Hohmann, L., and Shows, T. B., 1979, Complementation of genetic disease: A velocity sedimentation procedure for the enrichment of heterokaryons, Somat. Cell Genet. 5: 1013–1029.CrossRefGoogle Scholar
  117. 116.
    Kedes, L. H., 1976, Histone messengers and histone genes, Cell 8: 321–331.PubMedCrossRefGoogle Scholar
  118. 117.
    Klebe, R. J., Chen, T. R., and Ruddle, F. H., 1970, Controlled production of proliferating somatic cell hybrids, J. Cell Biol. 45: 74–82.PubMedCrossRefGoogle Scholar
  119. 118.
    Klinger, H. P., and Ruoslahti, E., 1980, Human chromosome 11 is syntenic with human specific fibronectin production in human × mouse cell hybrids, Cytogenet. Cell Genet. 28: 271–279.PubMedCrossRefGoogle Scholar
  120. 119.
    Klobutcher, L. A., and Ruddle, F. H., 1979. Phenotype stabilization and integration of transferred material in chromosome mediated gene transfer, Nature 280: 657–660.PubMedCrossRefGoogle Scholar
  121. 120.
    Koch, G., and Shows, T. B., 1978, A gene on human chromosome 6 functions in assembly of tissue-specific adenosine deaminase isozymes, Proc. Nat. Acad. Sci. USA 75: 3876–3880.PubMedCrossRefGoogle Scholar
  122. 121.
    Koch, G., Lalley, P. A., McAvoy, M., and Shows, T. B., 1981, Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19, Somat. Cell Genet. 7: 345–358.PubMedCrossRefGoogle Scholar
  123. 122.
    Koeffler, H. P., Sparkes, R. S., Stang, H., Mohandas, T., and Sparkes, M. C., 1982, Regional assignment of the human genes for α-globin and phosphoglycolate phosphatase to 16p, Cytogenet. Cell Genet., in press.Google Scholar
  124. 123.
    Kompf, J., Bissbort, S., and Ritler, H., 1975, Red cell glyoxylase I (EC Formal genetics and linkage relations, Human Genetik 28: 249–251.CrossRefGoogle Scholar
  125. 124.
    Krystal, M., D’Eustachio, P., Ruddle, F. H., and Arnheim, N., 1981, Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants, Proc. Nat. Acad. Sci. USA 78: 5744–5748.PubMedCrossRefGoogle Scholar
  126. 125.
    Kucherlapati, R. S., Creagan, R. P., Nichols, E. A., Borgaonkai, D. S., and Ruddle, F. H., 1975, Synteny relationships of four human genes: Mannose phosphate isomerase and pyruvate kinase-3 and triose phosphate isomerase to lactate dehydrogenase-B, Cytogenet. Cell Genet. 14: 194–199.Google Scholar
  127. 126.
    Kurosky, A., Barnett, D. R., Lee, T.-H., Touchstone, B., Hay, R. E., Arnott, M. S., Bowman, B. H., and Fitch, W. M., 1980, Covalent structure of human haptoglobin: A serine protease homolog, Proc. Nat. Acad. Sci. USA 77: 3388–3392.PubMedCrossRefGoogle Scholar
  128. 127.
    Kwok, S. C. M., Chan, S. J., Rubenstein, A. H., Poucher, R., and Steiner, D. F., 1981, Loss of a restriction endonuclease cleavage site in the gene of a structurally abnormal human insulin, Biochem. Biophys. Res. Commun. 98: 844–849.PubMedCrossRefGoogle Scholar
  129. 128.
    Lalley, P. A., and Shows, T. B., 1976, Human hexosaminidase A phenotype requires genes assigned to chromosome 5 and 15 for expression, Cytogenet. Cell Genet. 16: 192–196.PubMedCrossRefGoogle Scholar
  130. 129.
    Lalley, P. A., Rattazzi, M. C., and Shows, T. B., 1974, Human β-D-N acetylhexo-saminidase A and B: Expression and linkage relationships in somatic cell hybrids, Proc. Nat. Acad. Sci. USA 71: 1569–1573.PubMedCrossRefGoogle Scholar
  131. 130.
    Lalley, P. A., Brown, J. A., and Shows, T. B., 1976, Assignment of the hexosaminidase B gene to chromosome 5 and its segregation after diphtheria toxin selection employing an X;5 translocation; and the linkage of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase (M2) genes using man-rodent cell hybrids, Cytogenet. Cell Genet. 16: 188–191.PubMedCrossRefGoogle Scholar
  132. 131.
    Lalley, P. A., Brown, J. A., Eddy, R. L., Haley, L. L., Byers, M. G., Goggin, A., and Shows, T. B., 1977, Human β-glucuronidase: Assignment of the structural gene to chromosome 7 using somatic cell hybrids, Biochem. Genet. 15: 367–382.PubMedCrossRefGoogle Scholar
  133. 132.
    Lalley, P. A., Francke, U., and Minna, J. D., 1978, Homologous genes for enolase, phosphogluconate dehydrogenase, phosphoglucomutase, and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome 1p, Proc. Nat. Acad. Sci. USA 75: 2382–2386.PubMedCrossRefGoogle Scholar
  134. 133.
    Lalley, P. A., Minna, J. D., and Francke, U., 1978. Conservation of autosomal gene synteny groups in mouse and man, Nature 274: 160–163.PubMedCrossRefGoogle Scholar
  135. 134.
    Lauer, J., Shen, C.-K. J., and Maniatis, T., 1980, The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions, Cell 20: 119–130.PubMedCrossRefGoogle Scholar
  136. 135.
    Law, M. L., Kao, F.-T., Patterson, D., and Davidson, J. N., 1980, Isolation of recombinant clones containing DNA segments from human chromosomes 12 and 21, J. Cell Biol. 87: 109a.Google Scholar
  137. 136.
    Law, M. L., Kao, F.-T., and Davidson, J. N., 1982, Isolation and regional assignment of DNA fragments from human chromosome 12, in: Abstract book, 6th International Congress of Human Genetics, Israel.Google Scholar
  138. 137.
    Lawn, R. M., Fritsch, E. F., Parker, R. C., Blake, G., and Maniatis, T., 1978, The isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNA, Cell 15: 1157–1174.PubMedCrossRefGoogle Scholar
  139. 138.
    Lawn, R. M., Gross, M., Hauck, C. M., Franke, A. E., Gray, P. V., and Goeddel, D., 1981, DNA sequence of a major leukocyte interferon gene, Proc. Nat. Acad. Sci. USA 78: 5435–5439.PubMedCrossRefGoogle Scholar
  140. 139.
    Lebo, R. V., Carrano, A. V., Burkhart-Schultz, K. J., Dozy, A. M., and Kan, Y. W., 1979, Assignment of human beta-, gamma, and deltaglobin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis, Proc. Nat. Acad. Sci. USA 76: 5804–5808.PubMedCrossRefGoogle Scholar
  141. 140.
    Lebo, R. V., Yu, L. C., Cordell, B., Cheung, M. C., Chang, J. C., Carrano, A. V., Goodman, H. M., and Kan, Y. W., 1981, Subchromosomal assignment of the human insulin gene to the terminal portion of the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis, Clin. Res. 29: 114A.Google Scholar
  142. 141.
    Leder, P., Hansen, J. N., Konkel, D., Leder, A., Nishioka, Y., and Talkington, C., 1980, Mouse globin system: A functional and evolutionary analysis, Science 209: 1336–1392.PubMedCrossRefGoogle Scholar
  143. 142.
    Leder, A., Swan, D., Ruddle, F. H., D’Eustachio, P., and Leder, P., 1981, Dispersion of α-like globin genes of the mouse to three different chromosomes, Nature 293: 196–200.PubMedCrossRefGoogle Scholar
  144. 143.
    Lele, K. P., Penrose, L. S., and Stallard, H. B., 1963, Chromosome deletion in a case of retinoblastoma, Ann. Hum. Genet. 27: 171–174.PubMedCrossRefGoogle Scholar
  145. 144.
    Lewis, W. H. P., and Harris, H., 1967, Human red cell peptidases, Nature 215: 315–355.CrossRefGoogle Scholar
  146. 145.
    Little, P. F. R., Annison, G., Darling, S., Williamson, R., Camba, L., and Modell, B., 1980, Model for antenatal diagnosis of beta-thalassemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms, Nature 285: 144–147.PubMedCrossRefGoogle Scholar
  147. 146.
    Littlefield, J. W., 1964, Selection of hybrids from matings of fibroblasts in vitro and their presumed recombinants, Science 145: 709–710.PubMedCrossRefGoogle Scholar
  148. 147.
    Lobban, P. E., and Kaiser, A. D., 1973, Enzymatic end-to-end joining of DNA molecules, J. Mol. Biol. 78: 453–471.PubMedCrossRefGoogle Scholar
  149. 148.
    Lomedico, P., Rosenthal, N., Efstratiadis, A., Gilbert, W., Kolodner, R., and Tizard, R., 1979, The structure and evolution of the two nonallelic rat preproinsulin genes, Cell 18: 545–558.PubMedCrossRefGoogle Scholar
  150. 149.
    Magenis, R. E., Hecht, F., and Lourien, E. W., 1970, Heritable fragile site on chromosome 16: Probable localization of haptoglobin locus in man, Science 170: 85–87.PubMedCrossRefGoogle Scholar
  151. 150.
    Malcolm, S., Barton, P., Murphy, C., and Ferguson-Smith, M., 1981, Chromosomal localization of a single copy gene by in situ hybridization—human β-globin genes on the short arm of chromosome 11, Ann: Hum. Genet. 45: 135–141.CrossRefGoogle Scholar
  152. 151.
    Malcolm, S., Barton, P., Bentley, D. L., Ferguson-Smith, M. A., Murphy, C. S., and Rabbitts, T. H., 1982, Assignment of a VK locus for immunoglobulin light chains to the short arm of chromosome 2 (2 cen → p 13) by in situ hybridization using a cRNA probe of HK101λCh4A, Cytogenet. Cell Genet., in press.Google Scholar
  153. 152.
    Maniatis, T., Jeffrey, A., and Kleid, D. G., 1975, Nucleotide sequence of the rightward operator of phage λ, Proc. Nat. Acad. Sci. USA 72: 1184–1188.PubMedCrossRefGoogle Scholar
  154. 153.
    Maniatis, T., Kee, S. G., Efstratiadis, A., and Kafatos, F. C., 1976, Amplification and characterization of a β-globin gene synthesized in vitro, Cell 8: 163–182.PubMedCrossRefGoogle Scholar
  155. 154.
    Maniatis, T., Hardison, R. C., Lacy, E., Lauer, J., O’Connell, C., Quon, D., Sim, G. K., and Efstratiadis, A., 1978, The isolation of structural genes from libraries of eucaryotic DNA. Cell 15: 687–701.PubMedCrossRefGoogle Scholar
  156. 155.
    Maniatis, T., Fritsch, E. F., Lauer, J., and Lawn, R. M., 1980, The molecular genetics of human hemoglobins, Ann. Rev. Genet. 14: 145–178.PubMedCrossRefGoogle Scholar
  157. 156.
    Martial, J. A., Hallewell, R. A., Baxter, J. D., and Goodman, H. M., 1979, Human growth hormone: Complementary DNA cloning and expression in bacteria, Science 205: 602–605.PubMedCrossRefGoogle Scholar
  158. 157.
    McAlpine, P. J., Mohandas, T., Ray, M., Wang, H., and Hamerton, J. L., 1976, Assignment of the peptidase D gene locus (PEPD) to chromosome 19 in man, Cytogenet. Cell Genet. 16: 204–205.PubMedCrossRefGoogle Scholar
  159. 158.
    McBride, O. W., and Ozer, H. L., 1973, Transfer of genetic information by purified chromosomes, Proc. Nat. Acad. Sci. USA 70: 1258–1262.PubMedCrossRefGoogle Scholar
  160. 159.
    McBride, O. W., Swan, D., Leder, P., Hieter, P., and Hallis, G., 1982, Chromosomal location of human immunoglobulin light chain constant region genes, Cytogenet. Cell Genet., in press.Google Scholar
  161. 160.
    McConkey, E. H., Taylor, B. J., and Phan, D., 1979, Human heterozygosity: A new estimate, Proc. Nat. Acad. Sci. USA 76: 6500–6504.PubMedCrossRefGoogle Scholar
  162. 161.
    McKusick, V. A., 1978, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 5th ed., Johns Hopkins University Press, Baltimore.Google Scholar
  163. 162.
    McKusick, V. A., 1980, The anatomy of the human genome, J Heredity 71: 370–391.Google Scholar
  164. 163.
    Mears, J. G., Ramirez, F., Leibowitz, D., Nakamura, F., Bloom, A., Konotey-Ahulu, F., and Bank, A., 1978, Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders, Proc. Nat. Acad. Sci. USA 75: 1222–1226.PubMedCrossRefGoogle Scholar
  165. 164.
    Meera Khan, P., Doppert, B. A., Hayemeijer, A., and Westerveld, A., 1973, The human loci for phosphopyruvate hydratase and guanylate kinase are syntenic with the PGD-PGM1 linkage group in man-Chinese hamster somatic cell hybrids, Cytogenet. Cell Genet. 13: 130–131.CrossRefGoogle Scholar
  166. 165.
    Messing, J., Crea, R., and Seeburg, P. H., 1981, A system for shotgun DNA sequencing, Nucleic Acids Res. 9: 309–321.PubMedCrossRefGoogle Scholar
  167. 166.
    Miller, A. L., Freeze, H. H., and Kress, B. C., 1981, I-cell disease, in: Lysosomes and Lysosomal Storage Diseases (J. W. Callahan and J. A. Lowden, eds.), pp. 271–287. Raven Press, New York.Google Scholar
  168. 167.
    Miller, C. L., and Ruddle, F. H., 1978, Cotransfer of human X-linked markers into murine somatic cells via isolated metaphase chromosomes, Proc. Nat. Acad. Sci. USA 75: 3346–3350.PubMedCrossRefGoogle Scholar
  169. 168.
    Mishur, M. K., and Nance, W. E., 1969, Further evidence for close linkage of the Hbβ and Hbδ loci in man, J. Med. Genet. 6: 190–192.CrossRefGoogle Scholar
  170. 169.
    Montaya, J., Ojala, D., and Attardi, G., 1981, Distinctive features of the 5´-terminal sequences of the human mitochondrial mRNA, Nature 290: 465–474.CrossRefGoogle Scholar
  171. 170.
    Morrow, J. F., 1976, The prospects for gene therapy in humans, Ann. N. Y. Acad. Sci. 265: 13–21.PubMedCrossRefGoogle Scholar
  172. 171.
    Mowbray, S., Watson, B., and Harris, H., 1972, A search for electrophoretic variants of human adenine phosphoribosyl transferase, Ann. Hum. Genet. Lond. 36: 153–161.CrossRefGoogle Scholar
  173. 172.
    Nakaniski, S., Inoue, A., Keta, T., Nakamura, M., Chang, A. C. Y., Cohen, S. N., and Shosaku, N., 1979, Nucleotide sequence of cloned cDNA for bovine corticotropin-β-lipotropin precursor, Nature 278: 423–427.CrossRefGoogle Scholar
  174. 173.
    Naylor, S. L., Klebe, R. J., and Shows, T. B., 1978, Argininosuccinic aciduria: Assignment of the argininosuccinate lyase gene to the pter→q22 region of human chromosome 7 by bioautography, Proc. Nat. Acad. Sci. USA 75: 6159–6162.PubMedCrossRefGoogle Scholar
  175. 174.
    Naylor, S. L., Elliott, R. W., Brown, J. A., and Shows, T. B., 1982, Mapping of aminoacylase-1 and β-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes, Am. J. Hum. Genet., in press.Google Scholar
  176. 175.
    Naylor, S. L., Sakaguchi, A. Y., Gusella, J. F., Housman, D., and Shows, T. B., 1982, Mapping of an arbitrary restriction polymorphism to human chromosome 3, Cytogenet. Cell Genet., in press.Google Scholar
  177. 176.
    Naylor, S. L., Sakaguchi, A. Y., Schmickel, R. D., Gutai, M. G., and Shows, T. B., Submitted, Organization of rDNA spacer fragment variants among human acrocentric chromosomes in somatic cell hybrids.Google Scholar
  178. 177.
    Naylor, S. L., Sakaguchi, A. Y., Shows, T. B., Zasloff, M., and Holmes, M., in preparation, Human chromosome 6 contains two nonallelic tRNAimetimet genes.Google Scholar
  179. 178.
    Niall, H. D., Hogan, M. L., Sauer, R., Rosenblum, Y., and Greenwood, F. E., 1971, Sequences of pituitary and placental lactogenic and growth hormones, Proc. Nat. Acad. Sci USA 68: 866–970.PubMedCrossRefGoogle Scholar
  180. 179.
    Nishioka, Y., Leder, A., and Leder, P., 1980, Unusual α-globin-like gene that has clearly lost both globin intervening sequences, Proc. Nat. Acad. Sci. USA 77: 2806–2809.PubMedCrossRefGoogle Scholar
  181. 180.
    Noyes, B. E., Mevarech, M., Stein, R., and Agarwal, K. L., 1979, Detection and partial sequence analysis of gastrin mRNA by using an oligodeoxynucleotide probe, Proc. Nat. Acad. Sci. USA 76: 1770–1774.PubMedCrossRefGoogle Scholar
  182. 181.
    O’Farrell, P. H., Kutter, E., and Nakanishi, M., 1980, A restriction map of the bacteriophage T4 genome, Molec. Gen. Genet. 179: 421–435.PubMedCrossRefGoogle Scholar
  183. 182.
    Ohno, S., 1973, Ancient linkage groups and frozen accidents, Nature 244: 259–262.CrossRefGoogle Scholar
  184. 183.
    Ohta, T., and Kumura, M., 1971, Functional organization of genetic material as a product of molecular evolution, Nature 233: 118–119.PubMedCrossRefGoogle Scholar
  185. 184.
    Orkin, S. H., Alter, B. P., Altay, C., Mahoney, M. J., Lazarus, H., Hobbins, J. C., and Nathan, D. G., 1978, Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion, New Eng. J. Med. 299: 166–172.PubMedCrossRefGoogle Scholar
  186. 185.
    Orkin, S. H., Old, J. M., Weatherall, D. J., and Nathan, D. G., 1979, Partial deletion of β-globin gene DNA in certain patients with β°-thalassemia, Proc. Nat. Acad. Sci. USA 76: 2400–2404.PubMedCrossRefGoogle Scholar
  187. 186.
    Orkin, S. H., Kolodner, R., Michelson, A., and Husson, R., 1980, Cloning and direct examination of a structurally abnormal human β°-thalassemia globin gene, Proc. Nat. Acad. Sci. USA 77: 3558–3562.PubMedCrossRefGoogle Scholar
  188. 187.
    Owerbach, D., Doyle, D., and Shows, T. B., 1978, Genetics of the large, external, transformation-sensitive (LETS) protein: Assignment of a gene coding for expression of LETS to human chromosome 8, Prog. Nat. Acad. Sci. USA 75: 5640–5644.CrossRefGoogle Scholar
  189. 188.
    Owerbach, D., Doyle, D., and Shows, T. B., 1979, Genetics of the cell surface: Assignment of genes coding for external membrane proteins to human chromosomes 10 and 14, Som. Cell Genet. 5: 281–301.CrossRefGoogle Scholar
  190. 189.
    Owerbach, D., Bell, G. I., Rutter, W. J., and Shows, T. B., 1980, The insulin gene is located on chromosome 11 in humans, Nature 286: 82–84.PubMedCrossRefGoogle Scholar
  191. 190.
    Owerbach, D., Rutter, W. J., Martial, J. A., Baxter, J. D., and Shows, T. B., 1980, Genes for growth hormone, chorionic somatomammotropin, and growth hormone-like gene on chromosome 17 in humans, Science 209: 289–292.PubMedCrossRefGoogle Scholar
  192. 191.
    Owerbach, D., Bell, G. I., Rutter, W. J., Brown, J. A., and Shows, T. B., 1981, The insulin gene is located on the short arm of chromosome 11 in humans, Diabetes 20: 267–270.CrossRefGoogle Scholar
  193. 192.
    Owerbach, D., Rutter, W. J., Cooke, N. E., Martial, J. A., and Shows, T. B., 1981, The prolactin gene is located on chromosome 6 in humans, Science 212: 815–816.PubMedCrossRefGoogle Scholar
  194. 193.
    Owerbach, D., Rutter, W. J., Roberts, J. L., Whitfeld, P., Shine, J., Seeburg, P. H., and Shows, T. B., 1981, The proopiocortin (adrenocorticotropin/β-lipotropin) gene is located on chromosome 2 in humans, Somat. Cell Genet. 7: 359–369.PubMedCrossRefGoogle Scholar
  195. 194.
    Owerbach, D., Rutter, W. J., Shows, T. B., Gray, P., Goeddel, D. V., and Lawn, R. M., 1981, The leukocyte and fibroblast interferon genes are located on human chromosome 9, Proc. Nat. Acad. Sci. USA 78: 3123–3127.PubMedCrossRefGoogle Scholar
  196. 195.
    Paigen, K., 1979, Acid hydrolases as models of genetic control, Ann. Rev. Genet. 13: 417–466.PubMedCrossRefGoogle Scholar
  197. 196.
    Palmeter, R. D., 1973, Ovalbumin messenger ribonucleic acid translation, J. Biol. Chem. 248: 2095–2106.Google Scholar
  198. 197.
    Panny, S. R., Scott, A. F., Smith, K. D., Phillips, J. A., III, Kazazian, H. H., Jr., Talbot, C. C., Jr., and Boehm, C. D., 1981, Population heterogeneity of the HpaI restriction site associated with the beta globin gene: Implications for prenatal diagnosis, Am. J. Hum. Genet. 33: 25–35.PubMedGoogle Scholar
  199. 198.
    Pardue, M. L., Bonner, J. J., Lengyel, J., and Spradling, A. S., 1977, In situ hybridization for the study of chromosome structure and function, in: Molecular Human Cytogenetics (R. S. Sparkes and D. E. Comings, eds.), pp. 217–232, Academic Press, New York.Google Scholar
  200. 199.
    Paris Conference, 1971, Standardization in human genetics, in: Birth Defects: Original Article Series VIII, Vol. 7, The National Foundation, New York.Google Scholar
  201. 200.
    Parks, J. S., Herd, J. E., and Wurzel, J. M., 1981, Human growth hormone (HGH) deficiency and polymorphism within the HGH and human placental lactogen (HPL) gene cluster, Pediat. Res. 15: 513.CrossRefGoogle Scholar
  202. 201.
    Parnes, J. R., Velan, B., Felsenfeld, A., Ramanathan, L., Ferrini, U., Appella, E., and Seidman, J. G., 1981, Mouse β2-microglobulin cDNA clones: A screening procedure for cDNA clones corresponding to rare mRNAs, Proc. Nat. Acad. Sci. USA 78: 2253–2257.PubMedCrossRefGoogle Scholar
  203. 202.
    Pearson, P. L., Bakher, E., and Havell, R. A., 1982, Considerations in designing an efficient strategy for localizing unique sequence DNA fragments to human chromosomes, Cytogenet. Cell Genet., in press.Google Scholar
  204. 203.
    Phillips, J. A., III, Panny, S. R., Kazazian, H. H., Jr., Boehm, C. D., Scott, A. F., and Smith, K. D., 1980, Prenatal diagnosis of sickle cell anemia by restriction endonuclease analysis: HindIII polymorphisms in γ-globin genes extend test applicability, Proc. Nat. Acad. Sci. USA 77: 2853–2856.PubMedCrossRefGoogle Scholar
  205. 204.
    Popp, R. A., Lalley, P. A., Whitney, J. B., III, and Anderson, W. F., 1981, Mouse α-globin genes and α-like pseudo genes are not syntenic, Proc. Nat. Acad. Sci. USA 78: 6362–6366.PubMedCrossRefGoogle Scholar
  206. 205.
    Reddy, V. B., Thimmappaya, B., Dhar, R., Subramanian, K. N., Zain, B. S., Pan, J., Ghosh, P. K., Celma, M. L., and Weissman, S. M., 1978, The genome of simian virus 40, Science 200494–502.PubMedCrossRefGoogle Scholar
  207. 206.
    Renwick, J. H., 1969, Progress in mapping human autosomes, Br. Med. Bull. 25: 65–73.PubMedGoogle Scholar
  208. 207.
    Renwick, J. H., 1971, The mapping of human chromosomes, Ann. Rev. Genet. 5: 81–120.PubMedCrossRefGoogle Scholar
  209. 208.
    Riccuiti, F., and Ruddle, F. H., 1973, Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics, Nature New Biol. 241: 180–182.CrossRefGoogle Scholar
  210. 209.
    Rigby, P. W. J., Dieckmann, M., Rhodes, C., and Berg, P., 1977, Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I, J. Mol. Biol. 113: 237–251.PubMedCrossRefGoogle Scholar
  211. 210.
    Roberts, R. J., 1980, Restriction and modification enzymes and their recognition sequences, Nucleic Acids Res. 8: r63–r80.PubMedCrossRefGoogle Scholar
  212. 211.
    Roberts, B. E., and Paterson, B. M., 1973, Efficient transcription of tobacco mosaic virus RNA and rabbit globin 9S RNA in a cell-free system from commercial wheat germ, Proc. Nat. Acad. Sci. USA 70: 2330–2334.PubMedCrossRefGoogle Scholar
  213. 212.
    Robson, E. B., Polani, P. E., Dart, S. J., Jacobs, P. A., and Renwick, J. H., 1969, Probable assignment of the alpha locus of haptoglobin to chromosome 16 in man, Nature 223: 1163–1165.PubMedCrossRefGoogle Scholar
  214. 213.
    Rosen, J. M., Woo, S. L., Holder, J. W., Mears, A. R., and O’Malley, B. W., 1975, Preparation and preliminary characteristics of purified ovalbumin messenger RNA from the hen oviduct, Biochemistry 14: 69–78.PubMedCrossRefGoogle Scholar
  215. 214.
    Ross, J., Aviv, H., Scolnick, E., and Leder, P., 1972, In vitro synthesis of DNA complementary to purified rabbit globin on RNA, Proc. Nat. Acad. Sci. USA 69: 264–268.PubMedCrossRefGoogle Scholar
  216. 215.
    Rotwein, P., Chyn, R., Chirgwin, J., Cordell, B., Goodman, H. M., and Permutt, M. A., 1981, Polymorphism in the 5´-flanking region of the human insulin gene and its possible relation to type 2 diabetes, Science 213: 1117–1120.PubMedCrossRefGoogle Scholar
  217. 216.
    Rowley, J. D., 1980, Chromosome abnormalities in human leukemia, Ann. Rev. Genet. 14: 17–39.PubMedCrossRefGoogle Scholar
  218. 217.
    Ruddle, F. H., 1972, Linkage analysis using somatic cell hybrids, Adv. Hum. Genet. 3: 173–235.Google Scholar
  219. 218.
    Ruddle, F. H., and Creagan, R. P., 1975, Parasexual approaches to the genetics of man, Ann. Rev. Genet. 9: 407–486.PubMedCrossRefGoogle Scholar
  220. 219.
    Ruddle, F. H., and McBride, O. W., 1977, New approaches to cell genetics cotransfer of linked genetic markers by chromosome mediated gene transfer, in: The Molecular Biology of the Mammalian Genetic Apparatus (P. Tso, ed.), pp. 163–169, Elsevier, North-Holland.Google Scholar
  221. 220.
    Sakaguchi, A. Y., and Shows, T. B., 1982, Coronavirus 229E susceptibility in man-mouse hybrids is located on human chromosome 15. Somat. Cell Genet. 8: 83–94.PubMedCrossRefGoogle Scholar
  222. 221.
    Sakaguchi, A. Y., Naylor, S. L., Quinto, C., Rutter, W. J., and Shows, T. B., 1982, The chymotrypsinogen B gene (CTRB) is on human chromosome 16, Cytogenet. Cell Genet., in press.Google Scholar
  223. 222.
    Sakaguchi, A. Y., Naylor, S. L., Schmickel, R. D., and Shows, T. B., 1982, Assignment of an arbitrary restriction fragment, ARF-1, to human chromosome 6, Cytogenet. Cell Genet., in press.Google Scholar
  224. 223.
    Sakano, H., Rogers, J. H., Huppi, K., Brack, C., Traunecker, A., Maki, R., Wall, R., and Tonegawa, S., 1979, Domains and the hinge region of an immunoglobulin heavy chain are encoded in separate DNA segments, Nature 277: 627–633.PubMedCrossRefGoogle Scholar
  225. 224.
    Sanger, F., Coulson, A. R., Barrell, B. G., Smith, A. J. H., and Roe, B. A., 1980, Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing, J. Mol. Biol. 143: 161–178.PubMedCrossRefGoogle Scholar
  226. 225.
    Schafer, M., and White, R., 1982, Three random loci in the human genome with base pair change polymorphisms, Cytogenet. Cell Genet., in press.Google Scholar
  227. 226.
    Schmeckpeper, B. J., Willard, H. F., and Smith, K. D., 1981, Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome, Nucleic Acids Res. 9: 1853–1872.PubMedCrossRefGoogle Scholar
  228. 227.
    Schmid, C. W., and Deininger, P. L., 1975, Sequence organization of the human genome, Cell 6: 345–358.PubMedCrossRefGoogle Scholar
  229. 228.
    Scott, A. F., Phillips, J. A., and Migeon, B. R., 1979, DNA restriction endonuclease analysis for localization of human β- and δ-globin genes on chromosome 11, Proc. Nat. Acad. Sci. USA 76: 4563–4565.PubMedCrossRefGoogle Scholar
  230. 229.
    Shows, T. B., 1972, Genetics of human-mouse somatic cell hybrids: Linkage of human genes for lactate dehydrogenase-A and esterase-A4, Proc. Nat. Acad. Sci. USA 69: 348–352.PubMedCrossRefGoogle Scholar
  231. 230.
    Shows, T. B., 1972, Genetics of human-mouse somatic cell hybrids: Linkage of human genes for malate dehydrogenase and isocitrate dehydrogenase, Biochem. Genet. 7: 193–204.PubMedCrossRefGoogle Scholar
  232. 231.
    Shows, T. B., 1974, Somatic cell genetics of enzyme markers associated with three human linkage groups, in: Somatic Cell Hybridization (R. Davidson and F. de la Cruz, eds.), pp. 15–21, Raven Press, New York.Google Scholar
  233. 232.
    Shows, T. B., 1974, Synteny of human genes for glutamic oxaloacetic transaminase and hexokinase in somatic cell hybrids, Cytogenet. Cell Genet. 13: 143–145.PubMedCrossRefGoogle Scholar
  234. 233.
    Shows, T. B., 1975, Genetics, expression, and characterization of isozymes in somatic cell hybrids, in: Isozymes, III. Developmental Biology (C. L. Markert, ed.), pp. 619–636, Academic Press, New York.Google Scholar
  235. 234.
    Shows, T. B., 1977, Genetic and structural dissection of human enzymes and enzyme defects using somatic cell hybrids, in: Isozymes: Current Topics in Biological and Medical Research, Vol. 2 (M. C. Rattazzi, J. G. Scandalios, and G. S. Whitt, eds.), pp. 107–158, Alan R. Liss, New York.Google Scholar
  236. 235.
    Shows, T. B., 1978, Mapping the human genome and metabolic diseases, in: Birth Defects (J. W. Littlefield and J. DeGrouchy, eds.), pp. 66–84, Excerpta Medica, Amsterdam.Google Scholar
  237. 236.
    Shows, T. B., 1979, The X chromosome gene map, in: Genetic Mechanisms of Sexual Development (H. L. Vallet and I. H. Porter, eds.), pp. 253–269, Academic Press, New York.Google Scholar
  238. 237.
    Shows, T. B., and Brown, J. A., 1975, Human X-linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids, Proc. Nat. Acad. Sci. USA 72: 2125–2129.PubMedCrossRefGoogle Scholar
  239. 238.
    Shows, T. B., and McAlpine, P. J., 1979, The 1979 catalog of human genes and chromosome assignments, Cytogenet. Cell Genet. 25: 117–127.PubMedCrossRefGoogle Scholar
  240. 238a.
    Shows, T. B., and McAlpine, P. J., 1982, The 1981 catalog of assigned human genetic markers, Cytogenet. Cell Genet., in press.Google Scholar
  241. 239.
    Shows, T. B., and Ruddle, F. H., 1968, Function of the lactate dehydrogenase B gene in erythrocytes: Evidence for control by a regulatory gene, Proc. Nat. Acad. Sci. USA 61: 574–581.PubMedCrossRefGoogle Scholar
  242. 240.
    Shows, T. B., and Sakaguchi, A. Y., 1980, Gene transfer and gene mapping in mammalian cells in culture, In Vitro 16: 55–76.PubMedCrossRefGoogle Scholar
  243. 241.
    Shows, T. B., Tashian, R. E., Brewer, G. J., and Dern, R. J., 1964, Erythrocyte glucose-6-phosphate dehydrogenase in Caucasians: New inherited variant, Science 145: 1056.PubMedCrossRefGoogle Scholar
  244. 242.
    Shows, T. B., Ruddle, F. H., and Roderick, T. H., 1969, Phosphoglucomutase electrophoretic variants in the mouse, Biochem. Genet. 3: 25–35.CrossRefGoogle Scholar
  245. 243.
    Shows, T. B., Chapman, V. M., and Ruddle, F. H., 1970, Mitochondrial malate dehydrogenase and malic enzyme: Mendelian inherited electrophoretic variants in the mouse, Biochem. Genet. 4: 707–718.PubMedCrossRefGoogle Scholar
  246. 244.
    Shows, T. B., Champion, M. J., and Lalley, P. A. 1977, Expression of enzyme deficiencies in somatic cell hybrids: A strategy for the genetic and structural dissection of fatal lysosomal enzyme diseases, Am. J. Hum. Genet. 29: 99A.Google Scholar
  247. 245.
    Shows, T. B., Brown, J. A., Eddy, R. L., Byers, M. G., Haley, L. L., Cooper, E. S., and Goggin, A. P., 1978, Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids, Hum. Genet. 43: 119–125.PubMedCrossRefGoogle Scholar
  248. 246.
    Shows, T. B., Alper, C. A., Bootsma, D., Dorf, M., Douglas, T., Huisman, T., Kit, S., Klinger, H. P., Kozak, C., Lalley, P. A., Lindsley, D., McAlpine, P. J., McDougall, J. K., Meera Khan, P., Meisler, M., Morton, N. E., Opitz, J. M., Partridge, C. W., Payne, R., Roderick, T. H., Rubinstein, P., Ruddle, F. H., Shaw, M., Spranger, J. W., and Weiss, K., 1979, International system for human gene nomenclature, Cytogenet. Cell Genet. 25: 96–116.PubMedCrossRefGoogle Scholar
  249. 247.
    Shows, T. B., Scrafford-Wolff, L., Brown, J. A., and Meisler, M. H., 1979, GMI- Gangliosidosis: Chromosome 3 assignment of the β-galactosidase-A gene (βGALA), Somat. Cell Genet. 5: 147–158.PubMedCrossRefGoogle Scholar
  250. 248.
    Shows, T. B., Mueller, O. T., Honey, N. K., Wright, C. E., and Miller, A. L., 1982, Genetic heterogeneity within I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants, Am. J. Med. Genet., in press.Google Scholar
  251. 249.
    Sinet, P. M., Allard, D., Lejeune, S., and Jerome, H., 1974, Augmentation d’activite de la superoxyde dismutase erythrocytaire dans la trisomie pour le chromosome 21, C. R. Acad. Sci. 280: 3267–3270.Google Scholar
  252. 250.
    Slightom, J. L., Blechl, A. E., and Smithies, O., 1980, Human fetal G γ- and Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes, Cell 21: 627–638.PubMedCrossRefGoogle Scholar
  253. 251.
    Smith, M., Krinsky, A. M., Arredondo-Vega, F., Wang, A.-L., and Hirschhorn, K., 1982, Confirmation of the assignment of genes for human immunoglobulin heavy chains to chromosome 14, Cytogenet. Cell Genet., in press.Google Scholar
  254. 252.
    Solomon, E., Goodfellow, P., Chambers, S., Sperr, N., Hobart, M. J., Rabbits, T. H., and Povey, S., 1982, Confirmation of the assignment of immunoglobulin heavy chain genes to chromosome 14, using cloned DNA as molecular probes, Cytogenet. Cell Genet., in press.Google Scholar
  255. 253.
    Sood, A. K., Pereira, D., and Weissman, S. M., 1981, Isolation and partial nucleotide sequence of a cDNA clone for human histocompatibility antigen HLA-B by use of an oligodeoxynucleotide primer, Proc. Nat. Acad. Sci. USA 78: 616–620.PubMedCrossRefGoogle Scholar
  256. 254.
    Southern, E. M., 1975, Detection of specific sequences among DNA fragments separated by gel electrophoresis, J. Mol. Biol. 98: 503–517.PubMedCrossRefGoogle Scholar
  257. 255.
    Spritz, R. A., Jagadeeswaran, P., Choudary, P. V., Biro, P. A., Elder, J. T., DeRiel, J. K., Manley, J. L., Gefter, M. L., Forget, B. G., and Weissman, S. M., 1981, Base substitution in an intervening sequence of a β+-thalassemic human globin gene, Proc. Nat. Acad. Sci. USA 78: 2455–2459.PubMedCrossRefGoogle Scholar
  258. 256.
    Steffensen, D. M., 1975, Human histone genes mapped to chromosome 7, Cytogenet. Cell Genet. 25: 211.Google Scholar
  259. 257.
    Steffensen, D. M., Prensky, W., Mutton, D., and Hamerton, J. L., 1975, Mapping the human 5S RNA gene on chromosome 1 using translocations, Cytogenet. Cell Genet. 14: 264–268.CrossRefGoogle Scholar
  260. 258.
    Steinmetz, M., Moore, K. W., Frelinger, J. G., Sher, B. T., Shen, F.-W., Boyse, E. A., and Hood, L., 1981, A pseudogene homologous to mouse transplantation antigens: Transplantation antigens are encoded by eight exons that correlate with protein domains, Cell 25: 683–692.PubMedCrossRefGoogle Scholar
  261. 259.
    Surrey, S., Ohene-Frempong, K., Rappaport, E., Atwater, J., and Schwatz, E., 1980, Linkage of αG-Philadelphia to α-thalassemia in African-Americans, Proc. Nat. Acad. Sci. USA 77: 4885–4889.PubMedCrossRefGoogle Scholar
  262. 260.
    Szybalski, W. S., Szybalska, E. H., and Ragni, G., 1962, Genetic studies with human cell lines, Nat. Cancer Inst. Monogr. 7: 75–88.Google Scholar
  263. 261.
    Tashima, M., Calabretta, B., Torelli, G., Scofield, M., Maizel, A., and Saunders, G. F., 1981, Presence of a highly repetitive and widely dispersed DNA sequence in the human genome, Proc. Nat. Acad. Sci. USA 78: 1508–1512.PubMedCrossRefGoogle Scholar
  264. 262.
    Tiemeier, D. C., Tilghman, S. M., Polsky, F. I., Seidman, J. G., Leder, A., Edgell, M. H., and Leder, P., 1978, A comparison of two cloned mouse β-globin genes and their surrounding and intervening sequences, Cell 14: 237–245.PubMedCrossRefGoogle Scholar
  265. 263.
    Timmis, K. N., Cohen, S. N., and Cabello, F. C., 1978, DNA cloning and the analysis of plasmid structure and function, Prog. Mol. Subcell. Biol. 6: 1–58.CrossRefGoogle Scholar
  266. 264.
    Ulbrich, A., Dull, T. J., Gray, A., Brosius, J., and Sures, I., 1980, Genetic variation in the human insulin gene, Science 209: 612–615.CrossRefGoogle Scholar
  267. 265.
    Vanin, E. F., Goldberg, G. I., Tucker, P. W., and Smithies, O., 1980, A mouse α-globin-related pseudogene lacking intervening sequences, Nature 286: 222–226.PubMedCrossRefGoogle Scholar
  268. 266.
    Van Someren, H., Beyersbergen, von Henegouvien, H., Westerveld, A., and Bootsma, D., 1974, Synteny of the human loci for fumerate hydratase and UDPG pyrophos-phorylase with chromosome 1 markers in somatic cell hybrids, Cytogenet. Cell Genet. 13: 551–557.PubMedCrossRefGoogle Scholar
  269. 267.
    Verma, I. M., Temple, G. F., Fan, H., and Baltimore, D., 1972, In vitro synthesis of DNA complementary to rabbit reticulocyte 10S RNA, Nature New Biol. 235: 163–167.PubMedCrossRefGoogle Scholar
  270. 268.
    Wallace, R. B., Johnson, M. J., Hirose, T., Miyake, T., Kawashima, E. H., and Itakura, K., 1981, The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA, Nucleic Acids Res. 9: 879–894.PubMedCrossRefGoogle Scholar
  271. 269.
    Weiss, M. C., and Green, H., 1967, Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes, Proc. Nat. Acad. Sci. USA 58: 1104–1111.PubMedCrossRefGoogle Scholar
  272. 270.
    Weilauer, P. K., and Dawid, I. B., 1979, Isolation and sequence organization of human ribosomal DNA, J. Mol. Biol. 128: 289–303.CrossRefGoogle Scholar
  273. 271.
    Wigler, M., Pellicer, A., Silverstein, S., Axel, R., Urlaub, G., and Chasin, L., 1979, DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells, Proc. Nat. Acad. Sci. USA 76: 1373–1376.PubMedCrossRefGoogle Scholar
  274. 272.
    Willecke, K., Lange, R., Kruger, A., and Reber, T., 1976, Cotransfer of two linked human genes into cultured mouse cells, Proc. Nat. Acad. Sci. USA 73: 1274–1278.PubMedCrossRefGoogle Scholar
  275. 273.
    Wolf, S. F., Mareni, C. E., and Migeon, B. R., 1980, Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome, Cell 21: 95–102.PubMedCrossRefGoogle Scholar
  276. 274.
    Wullems, G. J., van der Horst, J., and Bootsma, D., 1977, Transfer of the human gene coding for thymidine kinase and galactokinase to Chinese hamster cells and human-Chinese hamster cell hybrids, Som. Cell Genet. 3: 281–293.CrossRefGoogle Scholar
  277. 275.
    Wyman, A. R., and White, R., 1980, A highly polymorphic locus in human DNA, Proc. Nat. Acad. Sci. USA 77: 6754–6758.PubMedCrossRefGoogle Scholar
  278. 276.
    Young, B. D., Krumlauf, R., Wiedemann, L., and Jeanpierre, M., 1982, Cloning of a DNA library from human chromosome no. 22, in: Abstract book, 6th International Congress of Human Genetics, Israel.Google Scholar
  279. 277.
    Yunis, J. J., Sawyer, J. R., and Ball, D. W., 1978, Characterization of banding patterns of metaphase-prophase G-banded chromosomes and their use in gene mapping, Cytogenet. Cell Genet. 22: 679–683.PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1982

Authors and Affiliations

  • Thomas B. Shows
    • 1
  • Alan Y. Sakaguchi
    • 1
  • Susan L. Naylor
    • 1
  1. 1.Department of Human Genetics, New York State Department of HealthRoswell Park Memorial InstituteBuffaloUSA

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