Skip to main content
SpringerLink
Log in

Spontaneous Mutation in Man

  • Chapter
Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 5))

Abstract

Mutation is one of the basic phenomena of life. Without mutation, the gradual development of life from inorganic material would have been impossible, and the evolution of living beings from the first groups of molecules in which a primitive, information-carrying unit cooperated with an energy gaining device59 up to the present diversity of highly refined living organisms could not have occurred. Therefore, one would expect that mutation, and especially “spontaneous” mutation, i.e., that occurring naturally and without any detectable external reasons, would attract the research activity of many biologists, especially geneticists. Surprisingly, however, this is not the case. In most experimental studies—for example, on microorganisms, Drosophila or the mouse—research on spontaneous mutation is being carried out more or less as a sideline of other work, and the results are widely scattered.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

Bibliography

  1. Abercrombie, M., Estimation of nuclear populations from microtome sections, Anat. Rec. 94: 239 (1946).

    PubMed  CAS  Google Scholar 

  2. Albertini, R., and DeMars, R., Dipoid azaguanine-resistant mutants of cultured human fibroblasts, Science 169: 482 (1970).

    CAS  Google Scholar 

  3. Ames, B., The nature and frequency of spontaneous mutations, unpublished paper presented at the Sixth Berkeley Symposium on Mathematical Statistics and Probability, Conference on Evolution (1971).

    Google Scholar 

  4. Andreassen, M., Haemofili i Danmark, Opera ex Domo Biol. Hered. Hum. Univ. Hafn., Vol. VI, Munksgaard, Copenhagen (1943).

    Google Scholar 

  5. Atwood, K. C., in: Mutations ( W. J. Schull, ed.), University of Michigan Press, Ann Arbor (1962).

    Google Scholar 

  6. Atwood, K. C., and Scheinberg, S. L., Somatic variation in human erythrocyte antigens, in: Symposium on Genetic Approaches to Somatic Cell Variations, Gatlin- burg, 1958.

    Google Scholar 

  7. Auerbach, C., The effect of sec on the spontaneous mutation rate in Drosophila melanogaster, J. Genet. 41: 255–265 (1941).

    Google Scholar 

  8. Baker, T. G., A quantitative and cytological study of germ cells in human ovaries, Proc. Roy. Soc. Lond. Ser. B 158: 417–433 (1963).

    CAS  Google Scholar 

  9. Baker, T. G., Comparative aspects of the effects of radiation during oogenesis, Mutat. Res. 11: 9–22 (1971).

    PubMed  CAS  Google Scholar 

  10. Barrai, J., Cann, H. M., Cavalli-Sforza, L. L., and de Nicola, P., The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B, Am. J. Hum. Genet. 20: 175–196 (1968).

    Google Scholar 

  11. Batchelor, A. L., Phillips, R. J. S., and Searle, A. G., The ineffectiveness of chronic irradiation with neutrons and y-rays in inducing mutations in female mice, Brit. J. Radiol. 42: 448 (1969).

    PubMed  CAS  Google Scholar 

  12. Beale, D., and Lehmann, H., Abnormal haemoglobins and the genetic code, Nature 207: 259–261 (1965).

    PubMed  CAS  Google Scholar 

  13. Beaumont, H. M., and Mandl, A. M., A quantitative and cytological study of oogonia and oocytes in the foetal and neonatal rat, Proc. Roy. Soc. Lond. Ser. B 155: 557 (1962).

    Google Scholar 

  14. Beaumont, H. M., and Mandl, A. M., A quantitative study of primordial germ cells in the male rat, J. Embryol. Exp. Morphol. 11 (4): 715–740 (1963).

    PubMed  CAS  Google Scholar 

  15. Becker, P. E., Dystrophia Muscular Progressiva, Thieme, Stuttgart (1953).

    Google Scholar 

  16. Becker, P. E., Neues zur Genetik und Klassifikation der Muskeldystrophien, Humangenetik 17: 1 (1972).

    PubMed  CAS  Google Scholar 

  17. Becker, P. E., and Lenz, F., Zur Schätzung der Mutationsrate der Muskeldystrophien, Z. Menschl. Vererb. Konstitutionsl. 33: 42 (1955).

    PubMed  CAS  Google Scholar 

  18. Becker, P. E., and Lenz, F., Zur Schätzung der Mutationsrate der Muskeldystrophien, Z. Menschl. Vererb. Konstitutionsl. 33: 463 (1956).

    Google Scholar 

  19. Behnke, H., and Holtermann, W., Häufigkeit, Vererbung und klinische Ausprägung der Aniridie in Schleswig Holstein, in: Proceedings of the Second International Congress of Human Genetics, Rome, 1961, pp. 1879–1883.

    Google Scholar 

  20. Benda, C., Neue Mitteilungen über die Entwicklung der Genitaldrüsen und über die Metamorphose der Samenzellen, Arch. Anat. Physiol., p. 549 (1891).

    Google Scholar 

  21. Benzer, S., The elementary units of heredity, in: The Chemical Basis of Heredity (McElroy and Glass,), pp. 70–93, Johns Hopkins University Press, Baltimore (1957).

    Google Scholar 

  22. Berendes, U., Multiple tumors of the skin: Clinical, histopathological, and genetic features, Humangenetik 22: 181–210 (1974).

    Google Scholar 

  23. Bitter, K., Erhebungen zur Bestimmung der Mutationsrate für Hämophilie A und B in Hamburg, Z. Menschl. Vererb. Konstitutionsl. 37: 251–268 (1964).

    Google Scholar 

  24. Bitter, K., Goedeke, L., Landbeck, G., and Lenz, W., Die Vererbung der Hämophilie A, Internist 4 (9): 397–400 (1963).

    PubMed  CAS  Google Scholar 

  25. Blank, C., Aperts syndrome (a type of acrocephalosyndactyly): Observations on a British series of 39 cases, Ann. Hum. Genet. 24: 151–164 (1960).

    PubMed  CAS  Google Scholar 

  26. Blyth, H., and Pugh, R. J., Muscular dystrophy in childhood: The genetic aspect, Ann. Hum. Genet. 23:127–163 (1959),

    Google Scholar 

  27. Borberg, A., Clinical and Genetic Investigatigations into Tuberous Schlerosis and Recklinghausens Neurofibromatosis, Munksgaard, Copenhagen (1951).

    Google Scholar 

  28. Bridges, B. A., and Huckle, J., Mutagenesis of cultured mammalian cells by x- radiation and ultraviolet light, Mutat. Res. 10: 141–151 (1970).

    PubMed  CAS  Google Scholar 

  29. Briard-Guillemot, M. L., Bonaiti-Pellié, C, Feingold, T., and Frézal, T., Étude génétique de rétinoblastome, Humangenetik 24: 271 (1974).

    PubMed  CAS  Google Scholar 

  30. Bundey, S., and Carter, C. O., Genetic heterogeneity for dystrophia myotonica, J. Med. Genet. 9: 311–315 (1972).

    PubMed  CAS  Google Scholar 

  31. Burhorn, D., Klinisch-genetische Analyse des von Hippel-Lindau-Syndroms, ausgehend von Patienten mit Angiomatosis retinae, Dissertation, Heidelberg (1970).

    Google Scholar 

  32. Cheeseman, E. A. S., Kilkpatrick, J., Stevenson, A. C., and Smith, C. A. B., The sex ratio of mutation rates of the sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy, Ann. Hum. Genet. 22: 235–263 (1958).

    PubMed  CAS  Google Scholar 

  33. Chu, E. H. Y., Point mutations in mammalian cell cultures as measures for mutagenicity testing, in: Chemical Mutagenesis in Mammals and Man (F. Vogel and G. Röhrborn,), p. 241, Springer, New York (1970).

    Google Scholar 

  34. Chu, E. H. Y., Induction and analysis of gene mutations in mammalian cells in culture, in: Chemical Mutagens, Vol. 2 (A. Hollaender,), p. 411, Plenum Press, New York (1971).

    Google Scholar 

  35. Chu, E. H. Y., Brimer, P., Jacobson, K. B., and Merriam, E. V., Mammalian cell genetics. I. Selection and characterization of mutations auxotrophic for L-glutamine or resistant to 8-azaguanine in Chinese hamster cells in vitro, Genetics 62: 359 (1969).

    CAS  Google Scholar 

  36. Clermont, Y., The cycle of the seminiferous epithelium in man, Am. J. Anat. 112: 35–45 (1963).

    PubMed  CAS  Google Scholar 

  37. Clermont, Y., Renewal of spermatogonia in man, Am. J. Anat. 118: 509–524 (1966).

    PubMed  CAS  Google Scholar 

  38. Clermont, Y., Spermatogenesis in man, Fertil. Steril. 17: 705 (1966).

    PubMed  CAS  Google Scholar 

  39. Clermont, Y., and Perey, B., Quantitative study of the cell population of the seminiferous tubules in immature rats, Am. Inst. Anat. 100: 244–250

    Google Scholar 

  40. Comings, D. E., The structure and function of chromatin, in: Advances in Human Genetics, Vol. 3 (H. Harris and K. Hirschhorn,), pp. 237–431, Plenum Press, New York (1972).

    Google Scholar 

  41. Crowe, F., Schull, W. J., and Neel, J. V., A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis, Charles C Thomas, Springfield, 111. (1956).

    Google Scholar 

  42. Curtis, G. M., The morphology of the mammalian seminiferous tubule, Am. J. Anat. 24: 339 (1918).

    Google Scholar 

  43. Czeizel, A., and Gârdonyi, J., Retinoblastoma in Hungary, Humangenetik 22: 153–158 (1974).

    PubMed  CAS  Google Scholar 

  44. Dalgaard, O. Z., Bilateral Polycystic Disease of the Kidneys, Opera ex Domo, Vol. 38, 255 pp., Munksgaard, Copenhagen (1957).

    Google Scholar 

  45. Danforth, G. H., The frequency of mutation and the incidence of hereditary traits in man: Eugenics, genetics and family, in: Scientific Papers of the Second International Congress of Eugenics, New York, 1921, Vol. 1, pp. 120–128.

    Google Scholar 

  46. Dayhoff, M. O., Atlas of Protein Sequence and Structure, The National Biochemical Research Foundation, Silver Spring, Md. (1972).

    Google Scholar 

  47. David, T. J., Dominant ectrodactyly and possible germinal mosaicism, J. Med. Genet. 9: 316–320 (1972).

    PubMed  CAS  Google Scholar 

  48. Dellweg, B., Molekularbiologische Betrachtungen zur Hämoglobinsynthese, Deutsch. Med. Wschr. 92: 1826–1831 (1967).

    PubMed  CAS  Google Scholar 

  49. DeMars, R., A temperature-sensitive glucose-6-phosphate dehydrogenase in mutant cultured human cells, Proc. Natl. Acad. Sei. 61: 562 (1968).

    CAS  Google Scholar 

  50. DeMars, R., Genetics studies of HG-PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells, Fed. Proc. 30: 944 (1971).

    PubMed  CAS  Google Scholar 

  51. De Mars, R., and Held, K. R., The spontaneous azaguanine-resistant mutants of diploid human fibroblasts, Humangenetik 16: 87–110 (1972).

    Google Scholar 

  52. De Mars, R., and Leroy, J. G., The remarkable cells cultured from a human with Hurlers syndrome: An approach to visual selection for in vitro genetic studies, In Vitro 2: 107 (1966).

    Google Scholar 

  53. Demerec, M., Frequency of spontaneous mutations in certain stocks of Drosophila melanogaster, Genetics 22: 469 (1937).

    CAS  Google Scholar 

  54. Derancourt, J., Lebor, A. S., and Zuckerkandl, E., Séquence des acides aminés, séquence des nucléotides et évolution, Bull. Soc. Chim. Biol. (Paris) 49: 577 (1967).

    CAS  Google Scholar 

  55. Drake, J. W., The Molecular Basis of Mutation, Holden-Day, San Francisco (1969).

    Google Scholar 

  56. Drake, J. W. (ed.), Proceedings of an International Workshop on the Genetic Control of Mutation, Genetics Suppl. 73 (April 1973).

    Google Scholar 

  57. Dunn, L. C., and Gluecksohn-Waelsch, S., Genetic analysis of seven newly discovered mutant alleles at locus t in the house mouse, Genetics 38: 261–271 (1953).

    PubMed  CAS  Google Scholar 

  58. von Ebner, H., Untersuchung über den Bau der Samenkanälchen und die Entwicklung der Spermatozoiden bei den Säugetieren und beim Menschen, Rollets Untersuch. Inst. Physiol., p. 200 (1871).

    Google Scholar 

  59. von Ebner, H., Zur Spermatogenese bei den Säugetieren, Arch. Mikros. Anat. 31: 236 (1888).

    Google Scholar 

  60. Ehrenberg, L., von Ehrenstein, G., and Hedgran, A., Gonad temperature and spontaneous mutation rate in man, Nature 180: 1433–1434 (1957).

    PubMed  CAS  Google Scholar 

  61. Eigen, M., Self-organization of matter and the evolution of biological macro- molecules, Naturwissenschaften 58: 465 - 523 (1971).

    PubMed  CAS  Google Scholar 

  62. Epstein, C. J., Role of the amino-acid code and of selection for conformation in the evolution of proteins, Nature 210:25 (1966).

    Google Scholar 

  63. Essig, F., Die Vererbung der Incontinentia pigmenti (Bloch-Sulzberger): Zur Frage x-chromosomaler Letalfaktoren beim Menschen, Med. Diss., Münster (1970).

    Google Scholar 

  64. Everett, N. B., The present status of the germ-cell problem in vertebrates, Biol. Rev. 20: 45 (1945).

    Google Scholar 

  65. Falls, H. F., and Neel, J. V., Genetics of retinoblastoma, Arch. Ophthalmol. (Chicago) 46: 367–389 (1951).

    CAS  Google Scholar 

  66. Fisher, R. A., The Genetical Theory of Natural Selection, Oxford University Press, London (1930) (rev. 1958 ).

    Google Scholar 

  67. Fitch, W. M., Amino-acid sequences of different species as source of information about mutation mechanism, Humangenetik 16: 67–69 (1972).

    PubMed  CAS  Google Scholar 

  68. Fitch, W. M., Evidence suggesting a non-random character of nucleotide replacements in naturally occurring mutations, J. Mol. Biol. 26: 499–507 (1967).

    PubMed  CAS  Google Scholar 

  69. Flatz, G., Kinderlever, J. L., Kilmartin, J. V., and Lehmann, H., Haemoglobin Tak: A variant with additional residues at the end of the jS-chains, Lancet 1: 732–733 (1971).

    PubMed  CAS  Google Scholar 

  70. Fonio, A., Die erblichen und die sporadischen Bluterstämme in der Schweiz, Bull. Schweiz. Akad. Med. Wiss. 10 (1954).

    Google Scholar 

  71. Fonio, A., Die Gerinnungsfaktoren bei der Hämophilie, Schwabe, Basel (1961).

    Google Scholar 

  72. Franchi, L. L., Mandl, A. M., and Zuckerman, S., The development of the ovary and the process of oogenesis, in: The Ovary, Vol. 1 (S. Zuckerman, A. M. Mandl, and P. Eckstein,), p. 1, Academic Press, London (1962).

    Google Scholar 

  73. Freese, E., Molecular mechanism of mutations, in: Molecular Genetics (J. H. Taylor, ed.), pp. 207–269, Plenum Press, New York (1963).

    Google Scholar 

  74. Freese, E., Molecular mechanism of mutations, in: Chemical Mutagens, Principles and Methods for Their Detection, Vol. 1 (A. Hollaender,), pp. 1–56, Plenum Press, New York (1971).

    Google Scholar 

  75. Freese, E., and Yoshida, A., in: Evolving Genes and Proteins ( V. Bryson and H. J. Vogel, eds.), p. 341, Academic Press, New York (1965).

    Google Scholar 

  76. Friedman, R., Seegmiller, J. E., and Sukak-Sharpe, J. H., Metabolic cooperation between genetically marked human fibroblasts in tissue culture, Nature 220: 272 (1968).

    Google Scholar 

  77. Fuhrmann, W., Stahl, A., and Schroeder, T. M., Das oro-facio-digitale Syndrom, Humangenetik 2: 133–164 (1966).

    Google Scholar 

  78. Fürst, C., Uber die Entwicklung der Samenkörperchen bei den Beutelthieren, Arch. Mikrod. Anat. Entwickl Lungsmech. 30: 336 (1887).

    Google Scholar 

  79. Gardner-Medwin, D., Mutation rate in Duchenne type of muscular dystrophy, J. Med. Genet. 7: 334–337 (1970).

    PubMed  CAS  Google Scholar 

  80. Gier, H. T., and Marion, G. B., Development of the mammalian testis, in: The Testis (A. D. Johnson, W. R. Gomes, and N. L. Vandemark,), pp. 1–45, Academic Press, New York (1970).

    Google Scholar 

  81. Gillin, F. D., Roufa, D. J., Beaudet, A. L., and Caskey, C. T., Asaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase, Genetics 72: 239 (1972).

    PubMed  CAS  Google Scholar 

  82. Glade, P. R., Kasel, J. A., Moses, H. L., Whang-Peng, J., Hoffmann, P. F., Kammermeyer, J. K., and Chessin, L. N., Infectious mononucleosis: Continuous suspension culture of peripheral blood leukocytes, Nature 217: 564 (1968).

    PubMed  CAS  Google Scholar 

  83. Graf, U., Spontaneous mutations in Drosophila melanogaster, Humangenetik 16:27–32(1972).

    Google Scholar 

  84. Grebe, H., Chondrodysplasie, Analecta Genet. Rom (1955).

    Google Scholar 

  85. Gunther, M., and Penrose, L. S., The genetics of epiloia, J. Genet. 31: 413–430 (1935).

    Google Scholar 

  86. Haidane, J. B. S., The rate of spontaneous mutations of a human gene, J. Genet. 31: 317–326 (1935).

    Google Scholar 

  87. Haidane, J. B. S., The spread of harmful autosomal recessive genes in human populations, Ann. Eugen. 9: 232–237 (1939).

    Google Scholar 

  88. Haidane, J. B. S., The mutation rate of the gene for haemophilia, and its segregation ratios in males and females, Ann. Eugen. (Lond. ) 13: 262–271 (1947).

    Google Scholar 

  89. Haidane, J. B. S., Mutation in sex-linked recessive type of muscular dystrophy: A possible sex difference, Ann. Hum. Genet. 20: 344–347 (1956).

    Google Scholar 

  90. Haidane, J. B. S., and Smith, C. A. B., A simple exact test for birth order effect, Ann. Eugen. (Lond.) 14:116–122 (1947/1949).

    Google Scholar 

  91. Hamerton, J. L., Chromosomes in Medicine, Lavenham Press, London (1971).

    Google Scholar 

  92. Hamilton, W. J., Boyd, J. D., and Mossman, H. W., Human Embryology, 2nd, p. 87, Williams and Wilkins, Baltimore (1952).

    Google Scholar 

  93. Harris, M., Mutation rates in cells at different ploidy levels, J. Cell. Physiol. 78: 177 (1971).

    PubMed  CAS  Google Scholar 

  94. Hartl, D. L., Recurrence risks for germinal mosaics, Am. J. Hum. Genet. 23: 124 (1971).

    PubMed  CAS  Google Scholar 

  95. Hartl, D., and Green, M. D., Genetic studies of germinal mosaicism in Drosophila melanogaster using the mutable w c gene, Genetics 65: 449–456 (1970).

    PubMed  CAS  Google Scholar 

  96. Heller, C. G., and Clermont, Y., Kinetics of the germinal epithelium in man, Recent Prog. Horm. Res. 20: 545–575 (1964).

    PubMed  CAS  Google Scholar 

  97. Henderson, J. F., Brox, L. W., Kelley, W. M., Rosenbloom, F. M., and Seegmiller, J. E., Kinetic properties of hypoxanthine-guanine phosphoribosyltransferase, J. Biol. Chem. 243: 2514 (1968).

    PubMed  CAS  Google Scholar 

  98. Herrmann, J., Der Einfluss des Zeugungsalters auf die Mutation zu Hämophilie A, Humangenetik 3: 1–16 (1966).

    PubMed  CAS  Google Scholar 

  99. Herrmann, J., Landbeck, G., and Lenz, W., Die Entstehung der Hämophilie A durch Mutationen in männlichen Keimzellen: Der Einfluss des Lebensalters, Deutsch. Med. Wschr. 91: 2290 (1960).

    Google Scholar 

  100. Hertig, A. T., and Rock, J., Two human ova of the pre-villous stage, having a developmental age of about seven and nine days respectively, Contrib. Embryol. Carnegie Inst. Wash. 31: 65 (1945).

    Google Scholar 

  101. Heuser, C. H., A human embryo with 14 pairs of somites, Contrib. Embryol. Carnegie Inst. Wash. 22: 135 (1930).

    Google Scholar 

  102. Hochereau, M. T., Constance des frequences relatives des stades du cycle de lepithelium chez le Taurau et chez le Rat, Ann. Biol. Anim. Biochim. Biophys. 3: 93 (1963).

    Google Scholar 

  103. Holstein, A. F., and Wartenberg, H., On the cytomorphology of human spermatogenesis, in: Morphological Aspects of Andrologie (A. F. Holstein, and F. Horstmann,), pp. 8–11, Thume, Stuttgard (1970).

    Google Scholar 

  104. Huisman, T. J. H., Wrightstone, R. N., Wilson, J. B., Schroeder, W. A., and Kendall, A. G., Hemoglobin Kenya, the product of fusion of y and ß polypeptide chains, Arch. Biochem. Biophys. 153: 850–853 (1972).

    PubMed  CAS  Google Scholar 

  105. Hutton, E. M„ and Thompson, M. W., Parental age and mutation rate in Duchenne muscular dystrophy, Am. J. Hum. Genet. 22: 26a (1970).

    Google Scholar 

  106. Ikkala, E., Haemophilia: A Study of Its Laboratory, Clinical, Genetic and Social Aspects Based on Known Haemophiliacs in Finland, Vammala, Helsinki (1960).

    Google Scholar 

  107. Ingram, D. L., Atresia, in: The Ovary, Vol. 1 (S. Zuckerman, A. M. Mandl, and P. Eckstein,), p. 247, Academic Press, London (1962).

    Google Scholar 

  108. Ingram, V. M., Gene mutations in human hemoglobin: The chemical difference between normal and sickle cell haemoglobin, Nature 180: 325–328 (1957).

    Google Scholar 

  109. Iuchi, I., Abnormal hemoglobin in Japan: Biochemical and epidemiologic characters of abnormal hemoglobin in Japan, Acta Haematol. Jap. 31: 842–851 (1968).

    CAS  Google Scholar 

  110. Ives, P. T., Patterns of spontaneous and radiation induced mutation rates during spermatogenesis in Drosophila melanogaster, Genetics 48: 981–996 (1963).

    CAS  Google Scholar 

  111. Jones, E. C., and Krohn, P. L., The relationships between age, numbers of oocytes and fertility in virgin and multiparous mice, J. Endocrinol. 21: 469 (1961).

    PubMed  CAS  Google Scholar 

  112. Kalein, A., Statistische Prüf- und Schätzverfahren för die relative Häufigkeit von Merkmalsträgern in Geschwisterreihen bei einem der Auslese unterworfenen Merkmal mit Anwendung auf das Öetinaglion, Arch. Klaus-Stift. Ver erb.-Forsch. 30: 263–485 (1955).

    Google Scholar 

  113. Kaufmann, B. P., Spontaneous mutation rate in Drosophila, Am. Naturalist 81: 77–80 (1947).

    CAS  Google Scholar 

  114. Kelley, W. N., Greene, M. L., Rosenbioom, F. M., Henderson, J. F., and Seeg- miller, J. E., Hypoxanthine-guanine phosphoribosyl transferase deficiency in gout, Ann. Int. Med. 70: 155 (1969).

    PubMed  CAS  Google Scholar 

  115. Kendall, A. G., Ojwang, P. J., Schroeder, W. A., and Huisman, T. H. J., Hemoglobin Kenya, the product of a y-ß fusion gene: Studies of the family, Am. J. Hum. Genet. 25: 548 (1973).

    PubMed  CAS  Google Scholar 

  116. Kerr, C. B., Genetics of human blood coagulation, J. Med. Genet. 2: 254 (1965).

    PubMed  CAS  Google Scholar 

  117. Kimura, M., Evolutionary rate at the molecular level, Nature 217: 624–626 (1968).

    PubMed  CAS  Google Scholar 

  118. Kimura, M., and Ohta, T., Mutation and evolution at the molecular level, Genetics Suppl. 73: 19–35 (April 1973).

    CAS  Google Scholar 

  119. King, J. L., The role of mutation in evolution, in: Proceedings of the Sixth Berkeley Symposium on Mathematical Statistics and Probability, pp. 69 - 100, University of California Press, Berkeley (1971).

    Google Scholar 

  120. Kinsey, A. C., Pomeroy, W. B., and Martin, C. E., Sexual Behaviour in the Human Male, Philadelphia (1948).

    Google Scholar 

  121. Klein, D., La dystrophic myotonique (Steinert) et la myotonie congénitale (Thomsen) en Suisse, J. Genet. Hum. Suppl. 7 (1958).

    Google Scholar 

  122. Klose, J., Discussion remark at the EEMS meeting, Heidelberg (April 1974).

    Google Scholar 

  123. Knudson, A. G., Mutation and cancer: Statistical study of retinoblastoma, Proc. Natl. Acad. Sei. 68 (4): 820–823 (1971).

    Google Scholar 

  124. Knudson, A. G., and Strong, L. C., Mutation and cancer: Neuroblastoma and pheochromocytoma, Am. J. Hum. Genet. 24: 514–532 (1972).

    PubMed  Google Scholar 

  125. Kondo, S., A theoretical study on spontaneous mutation rate, Mutat. Res. 14: 365–374 (1972).

    PubMed  CAS  Google Scholar 

  126. Kondo, S., Evidence that mutations are induced by errors in repair and replication, in: Workshop on the Genetic Control of Mutation (J. Drake, ed.), Genetics Suppl. 73:109–122 (1973).

    Google Scholar 

  127. Kosower, D., Christiansen, R., and Morton, N. E., Sporadic cases of hemophilia and the question of a possible sex-difference in mutations, Am. J. Hum. Genet. 14 159–169(1962).

    Google Scholar 

  128. Krooth, R. S., and Weinberg, A. N., Studies on cell lines developed from the tissue of patients with galactosemia, J. Exp. Med. 113: 1155 (1961).

    PubMed  CAS  Google Scholar 

  129. Krooth, R. S., The aetiology of human malformations with special references to congenital heart diseases and achondroplasia, Thesis, University London (1952).

    Google Scholar 

  130. Krooth, R. S., Properties of diploid cell strains developed from patients with an inherited abnormality of uridine biosynthesis, Cold Spring Harbor Symp. Quant. Biol. 29: 189 (1964).

    PubMed  CAS  Google Scholar 

  131. Krooth, R. S., Some properties of diploid cell strains developed from the tissues of patients with inherited biochemical disorders, In Vitro 2: 82 (1966).

    Google Scholar 

  132. Krooth, R. S., Darlington, G. A., and Velazquez, A. A., The genetics of cultured mammalian cells, Ann. Rev. Genet. 2: 141 (1968).

    Google Scholar 

  133. Krüger, J., and Vogel, F., Unequal crossing over, J. Mol. Evol. (in press).

    Google Scholar 

  134. Kuroiwa, Y., and Miyazaki, T., Epidemiological study of myopathy in Japan, in: Exploratory Concepts in Muscular Dystrophy and Related Disorders (A. I. Milhorat,), p. 98, Excerpta Medica International Congress Series No. 147, Excerpta Medica Foundation, Amsterdam (1967).

    Google Scholar 

  135. von Lanz, T., and Neuhäuser, G., Metrische Untersuchungen an den Tubuli contorti des meschlichen Hodens, Z. Anat. Entwicklungsges. 123: 462–489 (1963).

    Google Scholar 

  136. Leblond, C. P., Steinberger, E., and Roosen-Runge, E. C., Conference on Physiological Mechanisms Concerned with Conception, pp. 1–72, Pergamon Press, New York (1963).

    Google Scholar 

  137. Lehmann, H., Die Primärstrukturdes Hämoglobins und ihre Funktion. Die Hämoglobinvarianten, in: Synthesis, Structure and Function of Hemoglobin ( Martin, H., and Nowicki, L., eds.), Lehmanns, Munich (1972).

    Google Scholar 

  138. Lehmann, H., and Carell, R. W., Variations in structure of human hemoglobins, Br. Med. Bull. 25: 14–23 (1969).

    PubMed  CAS  Google Scholar 

  139. Lehmann, H., and Huntsmann, R. G., Man Haemoglobins. Including the Haemo- globinopathies and their Investigation, North-Holland, Amsterdam-Oxford (1974).

    Google Scholar 

  140. Lenz, W., Die Abhängigkeit der Missbildungen vom Alter der Eltern, in: Verh. Deutsch. Ges. Inn. Med. 64. Kongress, 1958, pp. 74–88, Bergmann (1959).

    Google Scholar 

  141. Lenz, W., Zur Genetik der Incotinentia pigmenti, Ann. Paediat. (Basel) 196: 141 (1961).

    Google Scholar 

  142. Lenz, W., Medizinische Genetik, Thieme, Stuttgart (1970).

    Google Scholar 

  143. Liebermann, I., and Ove, P., Estimation of mutation rates with mammalian cells in culture, Proc. Natl. Acad. Sei. 45: 872 (1959).

    Google Scholar 

  144. Lindgren, D., The temperature influence on the spontaneous mutation rate. I. Literature review, Hereditas 70: 165–178 (1972).

    PubMed  CAS  Google Scholar 

  145. Littlefield, J. W., The inosinic acid pyrophosphorylase activity of mouse fibroblasts partially resistant to 8-azoguanine, Proc. Natl. Acad. Sei. 50: 568 (1963).

    CAS  Google Scholar 

  146. Liining, K. G., and Searle, A. G., Estimates of the genetic risks from ionizing irradiation, Mutat. Res. 12: 291–304 (1971).

    Google Scholar 

  147. Luria, S. E., and Delbrück, M., Mutations of bacteria from virus sensitivity to virus resistance, Genetics 28: 491 (1943).

    PubMed  CAS  Google Scholar 

  148. Lynas, M. A., Dystrophia myotonica with special reference to Northern Ireland, Ann. Hum. Genet. 21:318–351 (1956/1957).

    Google Scholar 

  149. Lynas, M. A., Marfan’s syndrome in Northern Ireland. An account of 13 families, Ann. Hum. Genet. 22: 289 (1958).

    PubMed  CAS  Google Scholar 

  150. Lyon, M. F., and Morris, T., Gene and chromosomal mutation after large fractionated or unfractionated radiation doses to mouse spermatogonia, Mutation Res. 8: 191 (1969).

    PubMed  CAS  Google Scholar 

  151. MacDonald, J. A., and Kelley, W. N., Lesch-Nyhan syndrome: Altered kinetic properties of mutant enzyme, Science 171: 689 (1971).

    Google Scholar 

  152. Mackenzie, H. J., and Penrose, L. S., Two pedigrees of ectrodactyly, Ann. Eugen. CLond. ) 16: 88 (1951).

    Google Scholar 

  153. Macklin, M. T., A study of retinoblastoma in Ohio, Am. J. Hum. Genet. 12: 1 (1960).

    PubMed  CAS  Google Scholar 

  154. MacLeod, J., and Gold, R. Z., The male factor in fertility and infertility. VII. Semen quality in relation to age and sexual activity, Fertil. Steril. 4: 194–209 (1953).

    PubMed  CAS  Google Scholar 

  155. Mancini, R. E., Narbaitz, R., and Lavieri, J. C., Origin and development of the germinative epithelium and Sertoli cells in the human testis: Cytological and quantitative study, Anat. Ree. 136: 477 (1960).

    CAS  Google Scholar 

  156. Majewski, F., Zur Klinik und Genetik des oro-facio-digitalen Syndroms, Med. Diss., Münster (1968).

    Google Scholar 

  157. Marquardt, H., Spontaneous mutations in fungi, Humangenetik 16: 7–18 (1972).

    PubMed  CAS  Google Scholar 

  158. Matsunaga, E., Genetic study on sporadic retinoblastoma in Japan, in: Annual Report of the National Institute of Genetics, Vol. 12 (1961).

    Google Scholar 

  159. Matsunaga, E., Parental age and sporadic retinoblastoma, in: Annual Report of the National Institute of Genetics, Vol. 16, pp. 121–123 (1965).

    Google Scholar 

  160. Matsunaga, E., and Ogyu, H., Genetic study of retinoblastoma in a Japanese population, Jap. J. Hum. Genet. 4: 156 (1959).

    Google Scholar 

  161. McKay, D. G., Hertig, A. T., Adams, E. C., and Danzinger, S., Histochemical observations on the germ cells of human embryo, Anat. Ree. 117: 201 (1953).

    CAS  Google Scholar 

  162. McKusick, V. A., Mendelian Inheritance in Man, 3rd ed., Johns Hopkins University Press, Baltimore (1971).

    Google Scholar 

  163. McKusick, V. A., Kelly, T. E., and Dorst, J. P., Observations suggesting allelism of the achondroplasia and hypochondroplasia genes, J. Med. Genet. 10: 11 (1973).

    PubMed  CAS  Google Scholar 

  164. Mi, M.-P., Segregation analysis, Am. J. Hum. Genet. 19: 313–321 (1967).

    PubMed  CAS  Google Scholar 

  165. Mintz, B., Continuity of the female germ cell line from embryo to adult, Arch. Anat. Micros. Morphol. Exp. 48: 155 (1959).

    Google Scholar 

  166. Mohn, G., Würgler, F. E., Mutator genes in different species, Humangenetik 16: 49 - 58 (1972).

    PubMed  CAS  Google Scholar 

  167. Mollenbach, C. J., Medfodte Defekter i Ojets indre Hinder: Klinik og Arveligheds- forhold, Opera ex Domo Biol. Hered. Hum., Univ. Copenhagen, Munksgaard, Copenhagen (1947).

    Google Scholar 

  168. Morch, E. T., Chondrodystrophic Dwarfs in Denmark, Opera ex Domo Biol. Hered. Hum., Univ. Hafn., Vol. 3, Munksgaard, Copenhagen (1941).

    Google Scholar 

  169. Morton, N. E., Genetic tests under incomplete ascertainment, Am. J. Hum. Genet. 11:1–16(1959).

    Google Scholar 

  170. Morton, N. E., Segregation and linkage, in: Methodology in Human Genetics (W. J. Burdette, ed.), pp. 17–52, Holden-Day, San Francisco (1962).

    Google Scholar 

  171. Morton, N. E., and Chung, S. C., Formal genetics of muscular dystrophy, Am. J. Genet. 11: 360 - 379 (1959).

    CAS  Google Scholar 

  172. Moore, G. E., Gerner, R. E., and Franklin, H. A., Culture of normal human leukocytes, JAMA 199: 519 (1967).

    PubMed  CAS  Google Scholar 

  173. Moser, H., Wiesmann, U., Richterich, R., and Rosse, E., Progressive Muskeldystrophie. V. Häufigkeit, Klinik und Genetik der Duchenne-Form, Schweiz. Med. Wschr. 94: 1610–1621 (1964).

    PubMed  CAS  Google Scholar 

  174. Motulsky, A. G., Some evolutionary implications of biochemical variants in man, in: Proceedings of the Eighth International Congress of Anthropological and Ethnological Science, Tokyo, September, 1968

    Google Scholar 

  175. Murdoch, J. L., Walker, B. A., Hall, J. G., Abbey, H., Smith, K. K., and McKusick, V. A., Achondroplasia—A genetic and statistical survey, Ann. Hum. Genet. 33: 227 (1970).

    PubMed  CAS  Google Scholar 

  176. Murdoch, J., Walker, B. A., and McKusick, V. A., Parental age effects on the occurrence of new mutations for the Marfan syndrome, Ann. Hum. Genet. 35:331– 336(1972).

    Google Scholar 

  177. Murken, J. D., Uber multiple cartilaginäre Exostosen, Z. Menschl. Vererb. Konsti- tutionsl. 36: 469–505 (1963).

    Google Scholar 

  178. Neel, J. V., Some Problems in the Estimation of Spontaneous Mutation Rates in Animals and Man: Effects of Radiation on Human Heredity, pp. 139–150, World Health Organization, Geneva (1957).

    Google Scholar 

  179. Neel, J. V., Tiffany, T. O., and Anderson, N. G., Approaches to monitoring human populations for mutation rates and genetic disease in: Chemical Mutagens, Vol. 3 (A. Hollaender, ed.), pp. 105–150, Plenum Press, New York (1973).

    Google Scholar 

  180. Nevin, V. C., and Pearce, W. G., Diagnostic and genetical aspects of tuberous sclerosis, J. Med. Genet. 5: 273 (1968).

    PubMed  CAS  Google Scholar 

  181. Novick, A., and Szilard, L., Experiments with the chemostat on spontaneous mutations of bacteria, Proc. Natl Acad. Sei. 36: 708–719 (1950).

    CAS  Google Scholar 

  182. Nyhan, W. L., Clinical features of the Lesch-Nyhan syndrome, Fed. Proc. 27: 1027, 1034 (1968).

    Google Scholar 

  183. Oertelt, R., Klinisch-genetische Analyse des von Hippel-Lindau-Syndroms: Ausgehend von den Angioblastomen des Kleinhirns, Dissertation, Heidelberg(1970).

    Google Scholar 

  184. Ohno, S., The spontaneous mutation rate revisited and the possible principle of polymorphism generating more polymorphism, Canad. J. Genet. Cytol. 11: 457–467 (1969).

    PubMed  CAS  Google Scholar 

  185. Ohno, S., Evolution by Gene Duplication, Springer, New York (1970).

    Google Scholar 

  186. Ohno, S., Gene duplication, mutation load, and mammalian genetic regulatory systems, J. Med. Genet. 9: 254 (1972).

    CAS  Google Scholar 

  187. Ohno, S., Klinger, H. P., and Atkin, N. B., Human oogenesis, Cytogenetics 1: 42 (1962).

    PubMed  CAS  Google Scholar 

  188. Ohno, S., Sternius, C., Christian, L., and Schipmann, G., De novo mutation-like events observed at the 6-PGD locus of the Japanese quail, and the principle of polymorphism breeding more polymorphism, Biochem. Genet. 3: 417–428 (1969).

    PubMed  CAS  Google Scholar 

  189. Patten, B. M., Human Embryology, 2nd, Chaps. 5 and 7, Blakiston, Philadelphia (1953).

    Google Scholar 

  190. Pellie, C., Briard, M.-L., Feingold, J., and Frezal, J., Parental age in retinoblastoma, Humangenetik 20: 59–62 (1973).

    PubMed  CAS  Google Scholar 

  191. Penrose, L. S., Parental age and mutation, Lancet 11: 312 (1955).

    Google Scholar 

  192. Penrose, L. S., Parental age in achondroplasia and mongolism, Am. J. Hum. Genet. 9: 167–169 (1957).

    PubMed  CAS  Google Scholar 

  193. Penrose, L. S., Mutation, in: Recent Advances in Human Genetics, pp. 1–18, Churchill, London (1961).

    Google Scholar 

  194. Perey, B., Clermont, Y., and Leblond, C. P., The wave of the seminiferous epithelium in the rat, Am. J. Anat. 108: 47 (1961).

    Google Scholar 

  195. Peters, H., The effect of radiation in early life on the morphology and reproductive function of the mouse ovary, in: Advances in Reproductive Physiology, Vol. 4 (A. MacLaren,), p. 149, Logos-Academic, London (1969).

    Google Scholar 

  196. Pfeiffer, R. A., Dominant erbliche Acrocephalosyndaktylie, Z. Kinderheilk. 90: 301 (1964).

    PubMed  CAS  Google Scholar 

  197. Propping, P., Comparison of point mutation rates in different species with human mutation rates, Humangenetik 16: 43–48 (1972).

    PubMed  CAS  Google Scholar 

  198. Prot, J., Genetic-epidemiological studies in progressive muscular dystrophy, J. Med. Genet. 8: 90–96 (1971).

    PubMed  CAS  Google Scholar 

  199. Purdon, C. E., Dyer, K. F., and Papwarth, D. G., Spontaneous mutation in Drosophila: Studies on the rate of mutation in mature and immature male germ cells, Mutat. Res. 5 (1): 133–146 (1968).

    Google Scholar 

  200. Ratnoff, O. D., and Bennett, B., The genetics of hereditary disorders of blood coagulation, Science 179: 1291–1298 (1973).

    PubMed  CAS  Google Scholar 

  201. Reed., T. E., The definition of relative fitness of individuals with specific genetic traits. Am. J. Hum. Genet. 11: 137 (1959).

    Google Scholar 

  202. Reed, T. E., and Falls, H. F., A pedigree of aniridia with a discussion of germinal mosaicism in man, Am. J. Hum. Genet. 7: 28–38 (1955).

    PubMed  CAS  Google Scholar 

  203. Reed, T. E., and Neel, J. V., A genetic study of multiple polyposis of the colon (with an appendix deriving a method of estimating relative fitness), Am. J. Hum. Genet. 7: 236–263 (1955).

    PubMed  CAS  Google Scholar 

  204. Reed, T. E., and Neel, J. V., Huntington’s chorea in Michigan. 2. Selection and mutation, Am. J. Hum. Genet. 11: 107 (1959).

    PubMed  CAS  Google Scholar 

  205. Reith, W., Mutationen zu Hämophilie A: Häufigkeit im Regierungsbezirk Münster und Abhängigkeit vom Zeugungsalter, Dissertation, Münster (1970).

    Google Scholar 

  206. Rinehart, R. R., Spontaneous sex-linked recessive lethal frequencies from aged and non-aged spermatozoa of Drosphila melanogaster, Mutat. Res. 7: 417–423 (1969).

    CAS  Google Scholar 

  207. Rischbieth, H., and Barrington, A., Dwarfism, in: Treasury of Human Inheritance, Parts VII and VIII, Sect. XVa, pp. 355–573, Cambridge University Press, Cambridge (1912).

    Google Scholar 

  208. Ritterhof, R. K., and Glass, B., Spontaneous mutation rates at specific loci in Drosophila males and females, Science 124: 314–315 (1956).

    Google Scholar 

  209. Roosen-Runge, E. C., and Barlow, F. D., Quantitative studies on human spermatogenesis, Am. J. Anat. 93: 143–170 (1953).

    PubMed  CAS  Google Scholar 

  210. Roosen-Runge, E. C., Quantitative investigations on human testicular biopsies, Fertil. Steril. 7: 251 (1956).

    PubMed  CAS  Google Scholar 

  211. Roosen-Runges, E. C., The process of spermatogenesis in mammals, Biol. Rev. 37: 343 (1962).

    Google Scholar 

  212. Rosenbloom, F. M., Kelley, W. N., Kelley, J. F., and Seegmiller, J. E., Lyon hypothesis and X-linked disease. Lancet 11: 305 (1967).

    Google Scholar 

  213. Rüssel, W. L., The effect of radiation dose rate and fractionation on mutation in mice, in: Repair from Genetic Radiation Damage (F. H. Sobels, ed.), pp. 205–217, Pergamon, Oxford (1963).

    Google Scholar 

  214. Russell, J. D., and DeMars, R., UPD-glucose: alpha-D-galactose 1-phosphate uridylyltransferas activity in cultured human fibroblasts, Biochem. Genet. 1: 11 (1967).

    PubMed  CAS  Google Scholar 

  215. Russell, W. L., The genetic effects of radiation, in: Fourth UN International Conference on the Peaceful Uses of Atomic Energy, United Nations, New York (1971).

    Google Scholar 

  216. Saldanha, P. H., The estimation of relative fitness of gene determing achondroplasia based on the equilibrium between mutation and selective elimination rates, J. Genet. Hum. 11: 314–324 (1962).

    Google Scholar 

  217. Salzmann, J., De Mars, R., and Benke, P., Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells, Proc. Natl. Acad. Sci. 60: 545 (1968).

    PubMed  CAS  Google Scholar 

  218. Sato, K., Slesinski, R. S., and Littlefield, J. W., Chemical mutagenesis at the phosphoribosyltransferase locus in cultured human lymphoblasts, Proc. Natl. Acad. Sci. 69: 1244 (1972).

    PubMed  CAS  Google Scholar 

  219. Searle, A. G., Spontaneous frequencies of point mutations in mice, Humangenetik 16:33–38(1972).

    Google Scholar 

  220. Seedorf, K. S., Ostrogenesis imperfecta. A study of clinical features and heredity based on 55 Danish families comprising 180 affected members, in: Opera ex Domo Biol. Hered. Hum. Univ. Copenhagen, Vol. 20, Munkgaard, Copenhagen (1949).

    Google Scholar 

  221. Seegmiller, L. E., Rosenbloom, F. M., and Kelley, W. M., Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis, Science 155: 1682 (1967).

    PubMed  CAS  Google Scholar 

  222. a. Seid-Akhavan, M., Winter, W. P., Abramson, R. K., Riicknagel, D. L., Hemoglobin Wayne: A frameshift variant occurring in two distinct forms, Ann. Meet. Soc. Hem. (Miami, 1972, abstr. No. 9).

    Google Scholar 

  223. b. Sergeyev, A. S., On mutation rate of neurofibromatosis, Humangenetik (1975) (in press).

    Google Scholar 

  224. Shapiro, N. I., Khalizev, A. E., Luss, E. V., Marsak, M. I., Petrova, O. N., and Varshaver, N. B., Mutagenesis in cultured mammalian cells. I. Spontaneous gene mutations in human and Chinese hamster cells, Mutat. Res. 15: 203–214 (1972).

    PubMed  CAS  Google Scholar 

  225. Shaw, M. W., Falls, H. F., and Neel, J. V., Congenital aniridia, Am. J. Hum. Genet. 12: 4 (1960).

    Google Scholar 

  226. Sheldon, B. L., and Barker, J. S. F., The effect of temperature during development on mutation in Drosophila melanogaster, Mutat. Res. 1: 310–317 (1964).

    Google Scholar 

  227. Singer, K., Genetic aspects of tuberous sclerosis in a Chinese population, Am. /. Hum. Genet. 23: 33 (1971).

    PubMed  CAS  Google Scholar 

  228. Slatis, H. M., Comments on the rate of mutation to chondrodystrophy in man, Am. J. Hum. Genet. 7: 76 (1955).

    PubMed  CAS  Google Scholar 

  229. Smars, G., Osteogenesis imperfecta: Clinical, Genetic, Epidemiological, and Socio- medical Aspects, Svenska Bokforlaget, Stockholm (1961).

    Google Scholar 

  230. Smith, C. A. B., Note on the estimation of parental age effects, Am. J. Hum. Genet. 35: 337 (1972).

    CAS  Google Scholar 

  231. Smith, C. A. B., and Kilpatrick, S. J., Estimates of the sex ratio of mutation rates in sexlinked conditions by the method of maximum likehood, Ann. Hum. Genet. 22: 244–249 (1958).

    PubMed  CAS  Google Scholar 

  232. Sjogren, T., and Larsson, T., Microphthalmos and anophthalmos with or without coincident oligophrenia: A clinical and genetic-statistical study, Acta Psychiat. Neurol. Suppl. 56 (1949).

    Google Scholar 

  233. Sjolin, E., Haemophilic Diseases in Denmark: A Classification of the Clotting Defects in 78 Haemophilic Families, Blackwell, Oxford (1960).

    Google Scholar 

  234. Szybalski, W., Genetics of human cell lines. II. Method for determination of mutation rates to drug resistance, Exp. Cell Res. 18: 588–590 (1959).

    PubMed  CAS  Google Scholar 

  235. Szybalski, W., and Smith, M. J., Genetics of human cell lines. I. 8-Azaguanine resistance, a selective “single-step” marker, Proc. Soc. Exp. Biol. Med. 101: 662 (1959).

    PubMed  CAS  Google Scholar 

  236. Szybalski, W., Ragni, G., and Cohn, N. K., Mutagenic response of human somatic cell lines, in: Symposia of the International Society for Cell Biology, Vol. 3: Cytogenetics of Cells in Culture ( R. J. Harris, ed.), Academic Press, New York (1964).

    Google Scholar 

  237. Szybalski, W., Szybalski, E., and Ragni, G., Genetic studies with human cell lines, Natl. Cancer Inst. Monogr. 7: 75–89 (1962).

    Google Scholar 

  238. Schappert-Kummijser, J., Hemmes, G. D., and Nijland, R., The heredity of retinoblastoma, in: Second Congress of the European Society of Ophthalmology, Vienna, 1964, Ophthalmologic 151:197–213 (1966).

    Google Scholar 

  239. Schiemann, H., Uber Chondrodystrophie (Achondroplasie, Chondrodysplasie), Verlag der Akademie der Wissenschaften und der Literatur in Mainz ( Komm, bei Franz Steiner-Verlag, Wiesbaden ) (1966).

    Google Scholar 

  240. Schlager, G., and Dickie, M. M., Spontaneous mutations and mutation rates in the house mouse, Genetics 57: 319–330 (1967).

    PubMed  CAS  Google Scholar 

  241. Schlager, G., and Dickie, M. M., Natural mutation rates in the house mouse: Estimates for five specific loci and dominant mutations, Mutat. Res. 11: 89–96 (1971).

    PubMed  CAS  Google Scholar 

  242. Schnyder, U. W., Tumoren der Haut in genetischer Sicht, Praxis 55: 1478–1482 (1966).

    PubMed  CAS  Google Scholar 

  243. Schreider, E., A new mutant gene possibly carried simultaneously by two distinct gametes, J. Med. Genet. 6: 442 (1969).

    PubMed  CAS  Google Scholar 

  244. Schröder, G., Osteogenesis imperfecta: Eine klinisch—erbbiologische Untersuchung des Krankengutes in Westfalen—Schätzung der Mutationsrate für den Regierungsbezirk Münster (Westfalen), Z. Menschl. Vererb. Konstitutionsl. 37: 632 (1964).

    Google Scholar 

  245. Star linger, P., and Saedler, H., Insertion mutations in microorganisms, Biochemie 54 (2): 177–185 (1972).

    CAS  Google Scholar 

  246. Steinberger, E., and Tjioe, D. Y., A method for quantitative analysis of human seminiferous epithelium, Fertil. Steril. 19: 960–970 (1968).

    Google Scholar 

  247. Stephens, F. E., and Tyler, F. H., Studies in disorders of muscle, V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds, Am. J. Hum. Genet. 3: 111–125 (1951).

    PubMed  CAS  Google Scholar 

  248. Stern, C., Genetic Mosaics and Other Essays, Harvard University Press, Cambridge, Mass. (1968).

    Google Scholar 

  249. Stevenson, A. C., Muscular dystrophy in Northern Ireland. I. An account of the condition in fifty-one families, Ann. Eugen. (Lond. ) 18: 50 (1953).

    CAS  Google Scholar 

  250. Stevenson, A. C., Achondroplasia: An account of the condition in Northern Ireland, Am. J. Hum. Genet. 9: 81–91 (1957).

    PubMed  CAS  Google Scholar 

  251. Stevenson, A. C., Muscular dystrophy in Northern Ireland. IV. Some additional data, Ann. Hum. Genet. 22: 231 (1958).

    PubMed  CAS  Google Scholar 

  252. Stevenson, A. C., and Kerr, C. B., On the distribution of frequencies of mutation to genes determining harmful traits in man, Mutat. Res. 4: 339–352 (1967).

    PubMed  CAS  Google Scholar 

  253. Taylor, A. I., Dq~ 9 Dr and retinoblastoma, Humangenetik 10: 209–217 (1970).

    Google Scholar 

  254. Teplitz, R., and Ohno, S., Postnatal induction of ovogenesis in the rabbit (Orycto- lagus cuniculus), Exp. Cell Res. 31: 183 (1963).

    Google Scholar 

  255. Thalhammer, O., and Scheiber, V., Untersuchung über die Häufigkeiten angeborener Stoffwechselanomalien in Ost- und West-Österreich, Humangenetik 15:145–149(1972).

    Google Scholar 

  256. Thompson, L. H., and Baker, R. M., Isolation of mutants of cultured mammalian cells, in: Methods in Cell Biology, Vol. 6 (D. M. Prescott,), p. 290, Academic Press, New York (1973).

    Google Scholar 

  257. Tobari, Y. N., and Kojima, K. I., A study of spontaneous mutation rates at ten loci detectable by starch gel electrophoresis in Drosophila melanogaster, Genetics 70 (3): 397–403 (1972).

    CAS  Google Scholar 

  258. Todorov, A., Jéquier, J., Klein, B., and Marten, W. E., Analyse de la ségrégation dans la dystrophic myotonique, J. Genet. Hum. 18: 387–406 (1970).

    PubMed  CAS  Google Scholar 

  259. Tönz, O., Glatthaar, B. E., Winterhalter, K. H. and Ritter, H., New mutation in a Swiss girl leading to clinical and biochemical 13-thalassaemia minor, Humangenetik 20: 321 (1973).

    PubMed  Google Scholar 

  260. Tönz, O., Winterhalter, K. H., and Glatthaar, B. E., New mutation leading to jS-thalssaemia minor, Nature New Biol. 241: 127 (1973).

    PubMed  Google Scholar 

  261. Tucker, D. P., Steinberg, A. G., and Cogan, D. G., Frequency of genetic transmission of sporadic retinoblastoma, Arch. Ophthalmol. 57: 532 (1957).

    CAS  Google Scholar 

  262. Tünte, W., Human mutations and paternal age, Humangenetik 16: 77–82 (1972).

    PubMed  Google Scholar 

  263. Tünte, W., Becker, P. E., and von Knorre, G., Zur Genetik der Myositis ossificans progressiva, Humangenetik 4: 320 (1967).

    PubMed  Google Scholar 

  264. Tünte, W., and Lenz, W., Zur Häufigkeit und Mutationsrate des Apert-Syndroms, Humangenetik 4: 104–111 (1967).

    PubMed  Google Scholar 

  265. Vogel, F., Über eine Modifikation der Dahlbergschen Methode zur Schätzung menschlicher Mutationsraten, Acta Genet. (Basel) 5: 63–71 (1954).

    CAS  Google Scholar 

  266. Vogel, F., Uber Genetik und Mutationsrate des Retinoblastoms (Glioma retinae), Z. Menschl. Vererb. Konstitutionsl. 32: 308–336 (1954).

    CAS  Google Scholar 

  267. Vogel, F., Vergleichende Betrachtungen über die Mutationsrate der geschlechtsgebundenrezessiven Hämophilieformen in der Schweiz und in Dänemark, Blut 1:91–109(1955).

    Google Scholar 

  268. Vogel, F., Uber die Prüfung von Modellvorstellungen zur spontanen Mutabilität an menschlichem Material, Z. Menschl. Vererb. Konstitutionsl. 33: 470–491 (1956).

    CAS  Google Scholar 

  269. Vogel, F., Neue Untersuchungen zur Genetik des Retinoblastoms (Glioma retinae), Z. Menschl. Vererb. Konstitutionsl. 34: 205–236 (1957).

    CAS  Google Scholar 

  270. Vogel, F., Gedanken über den Mechanismus einiger spontaner Mutationen beim Menschen, Z. Menschl. Vererb. Konstitutionsl. 34: 389–399 (1958).

    CAS  Google Scholar 

  271. Vogel, F., Verzögerte Mutation beim Menschen: Einige kritische Bemerkungen zu Ch. Auerbachs Arbeit (1956), Ann. Hum. Genet. 22: 132–137 (1958).

    PubMed  CAS  Google Scholar 

  272. Vogel, F., Lehrbuch der allgemeinen Humangenetik, Springer, Berlin (1961).

    Google Scholar 

  273. Vogel, F., Mutations in man, in: Genetics Today: Proceedings of the Eleventh International Congress of Genetics, The Hague, 1963, pp. 833–850, Pergamon Press, London (1964).

    Google Scholar 

  274. Vogel, F., Eine vorläufige Abschätzung der Anzahl menschlicher Gene, Z. Menschl. Vererb. Konstitutionsl 37: 291–299 (1964).

    CAS  Google Scholar 

  275. Vogel, F., A preliminary estimate of the number of human genes, Nature 201: 847 (1964).

    PubMed  CAS  Google Scholar 

  276. Vogel, F., Sind die Mutationsraten für die x-chromosomal rezessiven Hämophilieformen in Keimzellen von Frauen niedriger als in Keimzellen von Männern? Humangenetik 1: 253–263 (1965).

    PubMed  CAS  Google Scholar 

  277. Vogel, F., Genetic prognosis in retinoblastoma, Mod. Trends Ophthalmol 4:32–42 (1967),

    Google Scholar 

  278. Vogel, F., Point mutations and human hemoglobin variants, Humangenetik 8: 1–26 (1969).

    PubMed  CAS  Google Scholar 

  279. Vogel, F., Spontaneous mutation in man, in: Chemical Mutagenesis in Mammals and Man (F. Vogel and G. Röhrborn,), pp. 16–68, Springer, New York (1970).

    Google Scholar 

  280. Vogel, F., Evidence on the mechanism of spontaneous mutations from human haemoglobin variants and some other proteins, Humangenetik 16: 71–76 (1972).

    PubMed  CAS  Google Scholar 

  281. Vogel, F., Non-randomness of base replacement in point mutation, J. Mol. Evol. 1:334–367(1972).

    Google Scholar 

  282. Vogel, F., Spontaneous mutation, in: International Titisee Workshop, Humangenetik 16:1–180 (1972).

    Google Scholar 

  283. Vogel, F., and Dorn, H., Krankheiten der Haut und ihrer Anhangsgebilde, in: Humangenetik, Vol. IV, pp. 346–535, Thieme, Stuttgart (1964).

    Google Scholar 

  284. Vogel, F.., and Röhrborn, G., Mutationsvorgänge bei der Entstehung von Hämoglobinvarianten, Humangenetik 1: 635–650 (1965).

    PubMed  CAS  Google Scholar 

  285. Vogel, F., and Röhrborn, G., Amino-acid substitutions in haemoglobins and the mutation process, Nature 210: 116–117 (1966).

    PubMed  CAS  Google Scholar 

  286. Vogel, F., Schleiermacher, E., and Schroeder, T., Fortschritte der allgemeinen und klinischen Humangenetik, Vol. 1: Strahlengenetik der Säuger, Thieme, Stuttgart (1969).

    Google Scholar 

  287. Vogel, F., and Schroeder, T. M., The internal order of the interphase nucleus, Humangenetik 25: 265 (1974).

    PubMed  CAS  Google Scholar 

  288. Wallace, B., Mutation rates for autosomal lethals in Drosophila melanogaster, Genetics 60: 389–393 (1968).

    CAS  Google Scholar 

  289. Wallace, B., Spontaneous mutation rates for sex-linked recessive lethals in the two sexes of Drosophila melanogaster, Genetics 64: 553–557 (1970).

    CAS  Google Scholar 

  290. Walton, J. N., On the inheritance of muscular dystrophy, Ann. Hum. Genet. 20: 1–38 (1955).

    PubMed  CAS  Google Scholar 

  291. Walton, J. N., The inheritance of muscular dystrophy: Further observations, Ann. Hum. Genet. 21: 40 (1956).

    PubMed  CAS  Google Scholar 

  292. Watson, J. D., and Crick, F. H. C., The structure of DNA, Cold Spring Harbor Symp. Quant. Biol. 18: 123–132 (1953).

    PubMed  CAS  Google Scholar 

  293. Weech, A. A., Combined acrocephaly and syndactylism occurring in mother and daughter: A case report, Bull. Johns Hopkins Hosp. 40: 73 (1927).

    Google Scholar 

  294. Weinberg, W., Zur Vererbung des Zwergwuchses, Arch. Rass. Ges. Biol. 9: 710–718 (1912).

    Google Scholar 

  295. Whitfield, H. J., Jr., Martin, R. G., and Ames, B., Classification of aminotransferase (C gene) mutants in the histidine operon, Mol. Biol. 21: 335–355 (1966).

    CAS  Google Scholar 

  296. Winkler, U., Spontaneous mutations in bacteria and phages, Humangenetik 16:19– 26 (1972).

    Google Scholar 

  297. Witschi, E., Development of Vertebrates, Saunders, Philadelphia (1956).

    Google Scholar 

  298. Witschi, E., Migration of the germ cells of human embryos from the yolk sac to the primitive gonadal folds, Contrib. Embryol. Carnegie Inst. Wash. (Embryol. reprint) 2 (32): 67 (1948).

    Google Scholar 

  299. Woolf, C. K., Paternal age effect for cleft lip and palate, Am. J. Hum. Genet. 15:389– 393 (1963).

    Google Scholar 

  300. Wright, S., and Eaton, O. N., Mutational mosaic coat patterns of the guinea pig, Genetics 11: 333–351 (1926).

    PubMed  CAS  Google Scholar 

  301. Yanase, T., Hanada, M., Seita, M., Ohya, T., Imamura, T., Fujimura, T., Kawasaki, K., and Yamaoka, K., Molecular basis of morbidity—From a series of studies of hemoglobinopathies in Western Japan, Jap. J. Hum. Genet. 13: 40–53 (1968).

    CAS  Google Scholar 

  302. Zimmermann, S. J., Maude, M. B., and Moldawer, M., Frequent ejaculation and total sperm count, motility, and form in humans, Fértil. Steril. 16: 342 (1965).

    Google Scholar 

  303. Zuckerkandl, E., Derancourt, J., and Vogel, H., Mutational trends and random process in the evolution of informational macromolecules, J. Mol. Biol. 59:473– 490 (1971).

    Google Scholar 

  304. Zuckerkandl, E., and Pauling, L., Evolutionary divergence and convergence in proteins, in: Evolving Genes and Proteins (V. Bryson and H. J. Vogel,), pp. 97– 166, Academic Press, New York (1965).

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik, University of Heidelberg, Heidelberg, Germany

    Friedrich Vogel & Rüdiger Rathenberg

Authors
  1. Friedrich Vogel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rüdiger Rathenberg
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University of New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

Rights and permissions

Reprints and permissions

Copyright information

© 1975 Plenum Press, New York

About this chapter

Cite this chapter

Vogel, F., Rathenberg, R. (1975). Spontaneous Mutation in Man. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9068-2_4

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-9068-2_4

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4615-9070-5

  • Online ISBN: 978-1-4615-9068-2

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation