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Grundlagen der Genetik und Populationsgenetik

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Transfusionsmedizin
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Zusammenfassung

Einer der Grundpfeiler der Transfusionsmedizin ist die Immungenetik, und diese wiederum ist nicht nur historisch, sondern auch aktuell eines der Hauptarbeitsgebiete der Humangenetik und hat sich mit dieser weiterentwickelt bis zu dem Punkt, daß die Blutgruppenmerkmale heute z. B. auch in Mumien bestimmt werden können. Beispielhaft für diesen schrittweisen wissenschaftlichen Fortschritt ist die Geschichte des ABO-Blutgruppensystems.

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Literatur

  1. Akam M, Holland P, Ingham P et al. (eds) (1994) The evolution of developmental mechanisms. Dev Suppl, Company of Biologists Ltd., Cambridge UK

    Google Scholar 

  2. Baron M, Norman DG, Campbell ID (1991) Protein modules. Trends Biochem Sci 16: 13–17

    Article  PubMed  CAS  Google Scholar 

  3. Bartram CR, Beier HM, Birnbacher T et al. (1995) Richtlinien zum Gentransfer in menschliche Körperzellen. Richtlinien des ständigen Arbeitskreises »Biomedizinische Ethik und Technikfolgenabschätzung« beim Wissenschaftlichen Beirat der Bundesärztekammer. Dtsch Ärztebl 92,11: B583–588

    Google Scholar 

  4. Batzer MA, Stoneking M, Alegria-Hartman M et al. (1994) African origin of human-specific polymorphic Alu insertions. Proc Natl Acad Sci USA 91: 12288–12292

    Article  PubMed  CAS  Google Scholar 

  5. Bayertz K, Schmidtke J, Schreiber H-L (1995) Somatische Gentherapie. Medizinische, ethische und juristische Aspekte des Gentransfers in menschliche Körperzellen. Fischer, Stuttgart

    Google Scholar 

  6. Bellus GA, Hefferon TW, Ortiz de Luna RI et al. (1995) Achondroplasia is defined by recurrent G38oR mutation in FGFR3. Am J Hum Genet 56: 368–373

    PubMed  CAS  Google Scholar 

  7. Bickmore WA, Sumner AT (1989) Mammalian chromosome banding–an expression of genome organization. Trends Genet 5: 144–148

    Article  PubMed  CAS  Google Scholar 

  8. Borgaonkar DS (1994) Chromosomal variation in man. A catalogue of chromosomal variants and anomalies, 7th edn. John Wiley & Sons, New York

    Google Scholar 

  9. Botstein D, White RL, Skolnick M et al. (1980) Construction of a genetic linkage map using restriction fragment lenghts polymorphisms. Am J Hum Genet 32: 314–331

    PubMed  CAS  Google Scholar 

  10. Cavalli-Sforza LL, Bodmer WF (1971) The genetics of human populations. Freeman, San Francisco

    Google Scholar 

  11. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Univ Press, Princeton

    Google Scholar 

  12. Cech TR (1987) The chemistry of self-splicing RNA and RNA enzymes. Science 236: 1532–1539

    Article  PubMed  CAS  Google Scholar 

  13. Chabot B, Stephenson DA, Chapman VM et al. (1988) The protooncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature (London) 335: 88–89

    Article  CAS  Google Scholar 

  14. Cooper DN, Krawczak M (1995) Human gene mutation, 2nd edn. Bios, Oxford UK

    Google Scholar 

  15. Copeland NG, Jenkins NA, Gilbert DJ et al. (1993) A genetic linkage map of the mouse: Current applications and future prospects. Science 262: 59–66

    Google Scholar 

  16. Cowin P (1994) Plakoglobin. In: Collins JE, Garrod DR (eds) Molecular biology of desmosomes and hemidesmosomes. Landes, Austin

    Google Scholar 

  17. Crow JF, Kimura M (1970) An introduction to population genetics theory. Harper & Row, New York

    Google Scholar 

  18. Culver KW (1994) Gene therapy: A handbook for physicians. Liebert, New York

    Google Scholar 

  19. Darr C, Brown JW, Pace NR (1992) The varieties of ribonuclease P. Trends Biochem Sci 17: 178–182 [s. auch (1995) 20: 78–82]

    Google Scholar 

  20. Dickson B (1995) Nuclear factors in sevenless signalling. Trends Genetics 11: 106–111

    Article  CAS  Google Scholar 

  21. Doolittle RF (ed) (1990) Molecular evolution. Computer analysis of protein and nucleic acid sequences. Academic Press, New York London

    Google Scholar 

  22. Dorit RL, Schoenbach L, Gilbert W (1990) How big is the universe of exons? Science 25o: 1377–1382

    Google Scholar 

  23. Eibach U (1994) Der Mensch als Schöpfer von Leben? Ethische Probleme der Gentechnik. In: Klingmüller W (Hrsg) Gentechnik im Widerstreit, 3. Aufl. Hirzel, Suttgart, S 153–170

    Google Scholar 

  24. Eigen M, Schuster P (1977) The hypercycle: A principle of self-organization. Part A: Emergence of the hypercycle. Naturwissenschaften 64: 541–565

    Article  PubMed  CAS  Google Scholar 

  25. Eigen M, Winkler-Oswatitsch R (1992) Steps towards life. A perspective of evolution. Univ Press, Oxford

    Google Scholar 

  26. Fantl WJ, Johnson DE, Williams LT (1993) Signalling by receptor tyrosine kinases. Annu Rev Biochem 62: 453–481

    Article  PubMed  CAS  Google Scholar 

  27. Fitch WM (1976) Molecular evolutionary clocks. In: Ayala FJ (ed) Molecular evolution. Sinauer, Sunderland MA, pp 160–178

    Google Scholar 

  28. Fitch WM, Upper K (1987) The phylogeny of tRNA sequences provides evidence for ambiguity reduction in the origin of genetic code. Cold Spring Harbor Symp Quant Biol LII (Evolution of catalytic function): 759–767

    Google Scholar 

  29. Frewer M (1977) Das wissenschaftliche Werk Felix Bernsteins. Dipl-Arb, Inst Mathematische Statistik und Wirtschaftsstatistik, Göttingen

    Google Scholar 

  30. Friedman T (1992) A brief history of gene therapy. Nat Genet 2: 93–98

    Article  Google Scholar 

  31. Gesteland RF, Atkins JF (eds) ( 1993, Pbk 1995) The RNA world. CSH Monogr 24. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY

    Google Scholar 

  32. Gilbert SF (1994) Developmental biology, 4th edn. Sinauer, Sunderland

    Google Scholar 

  33. Gilbert W (1985) Genes-in-pieces revisited. Science 228: 823–824

    Article  PubMed  CAS  Google Scholar 

  34. Gonzales FJ, Nebert DW (1990) Evolution of the P450 gene superfamily: animal-plant »warfare«, molecular drive and human genetic differences in drug oxidation. Trends Genet 6: 182–186

    Article  Google Scholar 

  35. Goodman M, Moore GW, Matsuda G (1975) Darwinian evolution in the genealogy of haemoglobin. Nature (London) 253: 603–608

    Article  CAS  Google Scholar 

  36. Gould SJ (1989) Wonderful life. The Burgess shale and the nature of history. Norton, New York

    Google Scholar 

  37. Greenberg AS, Avila D, Hughes M et al. (1995) A new antigen receptor gene family that undergoes rearrangement and extensive somatic diversification in sharks. Nature (London) 374: 168–173

    Article  CAS  Google Scholar 

  38. Grosveld F, Kollias G (eds) (1992) Transgenic animals. Academic Press, New York London

    Google Scholar 

  39. Hedrick L, Cho KR, Boyd J et al. (1992) A tumor suppressor gene expressed on the cell surface. Cold Spring Harbor Symp Quant Biol LVII (The cell surface): 345–351

    Google Scholar 

  40. Herrmann B, Hummel S (eds) (1994) Ancient DNA. Recovery and analysis of genetic material from palaeontological, archeological, museum, medical and forensic specimens. Springer, Berlin Heidelberg New York

    Google Scholar 

  41. Hooper ML (1992) Embryonal stem cells. Introducing planned changes into the animal germ line. Harwood, Reading

    Google Scholar 

  42. Hopkinson DA (1993) The long [E/e] and the short [C/c] of the rhesus polymorphism. Nat Genet 5: 6–7

    Article  PubMed  CAS  Google Scholar 

  43. Humphries SE, Malcolm S (1994) From genotype to phenotype. Bios, Oxford UK

    Google Scholar 

  44. Hunter T, Lindberg RA, Middlemas DS et al. (5992) Receptor protein tyrosine kinases and phosphatases. Cold Spring Harbor Symp Quant Biol LVII (The cell surface): 25–41

    Google Scholar 

  45. Jacob F (1977) Evolution and tinkering. Science 196: 1161–1166

    Google Scholar 

  46. James MR, Richard III CW, Schott JJ et al. (1994) A radiation hybrid map of 506 STS markers spanning human chromosome is. Nat Genet 8: 70–76

    Article  PubMed  CAS  Google Scholar 

  47. Jörgensen G (1967) The ABO blood group-polymorphism in the multifactorial genetic system. Humangenetik 3: 264–268

    Article  PubMed  Google Scholar 

  48. Karlsson S, Nienhuis AW (1985) Developmental regulation of human globin genes. Annu Rev Biochem 54: 1071–1108

    Article  PubMed  CAS  Google Scholar 

  49. Kauffman SA (1993) The origins of order. Self-organization and selection in evolution. Oxford University Press, London

    Google Scholar 

  50. Krawczak M, Schmidtke J (1994) DNA fingerprinting. Bios, Oxford UK

    Google Scholar 

  51. Kurjan J (1993) The pheromone response pathway in Saccharomyces cerevisiae. Annu Rev Genet 27: 147–179

    Article  PubMed  CAS  Google Scholar 

  52. Kuwabara PE, Kimble J (1992) Molecular genetics of sex determination in C. elegans. Trends Genet 8: 164–168

    PubMed  CAS  Google Scholar 

  53. Langenbeck U (1975) Methoden, Konzepte and Ereignisse in der Erforschung der genetisch bedingten Variation von Proteinen. In: Becker PE (Hrsg) Humangenetik. Ein kurzes Handbuch in fünf Bänden, Bd I/3. Protein-and Enzymvarianten. Thieme, Stuttgart, S XIX-XXVII

    Google Scholar 

  54. Langenbeck U (1980) Angeborene Stoffwechselstörungen als Experiment der Natur. Med Unserer Zeit 4: 47–50

    Google Scholar 

  55. Langenbeck U, Lukas HD, Mench-Hoinowski A et al. (1988) Correlative study of mental and biochemical phenotypes in never treated patients with classic phenylketonuria. Brain Dysfunct 1: 103–110

    Google Scholar 

  56. Larrick JW, Burck KL (1991) Gene therapy. Application of molecular biology. Elsevier, Amsterdam New York

    Google Scholar 

  57. Lever AML, Goodfellow P (eds) (1995) Gene therapy. Br Med Bull 51, 1: 1–242

    Google Scholar 

  58. Lewontin RC (1974) The genetic basis of evolutionary change. Columbia Univ Press, New York

    Google Scholar 

  59. Lundin L (1993) Evolution of the vertebrate genome as reflected in paralogous chromosomal regions in man and the house mouse. Genomics 16: 1–19

    Article  PubMed  CAS  Google Scholar 

  60. Mantegna RN, Buldyrev SV, Goldberger AL et al. (1994) Linguistic features of noncoding DNA sequences. Phys Rev Lett 73: 3169–3172

    Article  PubMed  CAS  Google Scholar 

  61. McKusick VA (1994) Mendelian inheritance in man. A catalog of human genes and genetic disorders, 11th edn. Johns Hopkins Univ Press, Baltimore

    Google Scholar 

  62. Miller AD (1992) Human gene therapy comes of age. Nature (London) 357: 455–460

    Article  CAS  Google Scholar 

  63. Mittelman F (1994) Catalog of chromosome aberrations in cancer, 5th edn. Wiley-Liss, New York

    Google Scholar 

  64. Morgan RA, Anderson WF (1993) Human gene therapy. Annu Rev Biochem 62: 191–217

    Article  PubMed  CAS  Google Scholar 

  65. Morral N, Bertranpetit J, Estivill X et al. (1994) The origin of the major cystic fibrosis mutation (AF5o8) in European populations. Nat Genet 7: 169–175

    Article  PubMed  CAS  Google Scholar 

  66. Nadeau JH (1989) Maps of linkage and synteny homologies between mouse and man. Trends Genet 5: 82–86

    Article  PubMed  CAS  Google Scholar 

  67. Nadeau JH, Grant PL, Mankala S et al. (1995) A Rosetta Stone of mammalian genetics. Nature (London) 373: 363–365

    Article  CAS  Google Scholar 

  68. Nolan C, Margiolash E (1968) Comparative aspects of primary structures of proteins. Annu Rev Biochem 37: 727–790

    Article  PubMed  CAS  Google Scholar 

  69. Ohno S (1970) Evolution by gene duplication. Springer, Berlin, Heidelberg, New York

    Google Scholar 

  70. Ohno S (1981) Original domain for the serum albumin family arose from repeated sequences. Proc Natl Acad Sci USA 78: 7657–7661

    Article  PubMed  CAS  Google Scholar 

  71. Orengo CA, Jones DT, Thornton JM (1994) Protein superfamilies and domain superfolds. Nature (London) 372: 631–634

    Article  CAS  Google Scholar 

  72. Orgel LE (1987) Evolution of the genetic apparatus: A review. Cold Spring Harbor Symp Quart Biol LII (Evolution of catalytic function): 9–11 (sowie 5 weitere Arbeiten im Kapitel »Primordial soup« d. gl. Bd.)

    Google Scholar 

  73. Ortells MO, Lunt GG (1995) Evolutionary history of the ligand-gated ion-channel superfamily of receptors. Trends Neurosci 18: 121–127

    Article  PubMed  CAS  Google Scholar 

  74. Pena SDJ, Chakraborty R (1994) Paternity testing in the DNA era. Trends Genet 10: 204–209

    Article  PubMed  CAS  Google Scholar 

  75. Powars DR (1991) Sickle-cell anemia: IT-gene-cluster haplotypes as prognostic indicators of vital organ failure. Sem Hematol 28: 202–208

    CAS  Google Scholar 

  76. Prokop O. Göhler W (1986) Die menschlichen Blutgruppen, 5. Aufl. Fischer, Stuttgart

    Google Scholar 

  77. Prokop U, Uhlenbruck G (1963, 2. Aufl. 1966) Lehrbuch der menschlichen Blut-und Serumgruppen. Thieme, Leipzig

    Google Scholar 

  78. Race RR, Sanger R (1968) Blood groups in man, 5th edn. Blackwell, Oxford UK

    Google Scholar 

  79. Royer-Pokora S, Kunkel LM, Monaco AP et al. (1986) Cloning of the gene for an inherited human disorder — chronic granulomatous disease — on the basis of its chromosomal location. Nature (London) 322: 32–38

    Article  CAS  Google Scholar 

  80. Rubenstein E (1994) Preface. In: Leder P, Clayton DA, Rubenstein E (eds) Introduction to molecular medicine. Scientific American, New York

    Google Scholar 

  81. Rutland P, Pulleyn LJ, Reardon W et al. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 9: 173–176

    Article  PubMed  CAS  Google Scholar 

  82. Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. De Gruyter, Berlin

    Google Scholar 

  83. Schöneburg E, Heinzmann F, Feddersen S (1994) Genetische Algorithmen und Evolutionsstrategien. Eine Einführung in Theorie und Praxis der simulierten Evolution. Addison-Wesley, Bonn

    Google Scholar 

  84. Schwarzfischer F, Helmbold W (1972) Blutgruppen. Allgemeine Grundlagen und formale Genetik. In: Becker PE (Hrsg) Humangenetik. Ein kurzes Handbuch in fünf Bänden, Bd I/4. Thieme, Stuttgart, S 1–128

    Google Scholar 

  85. Searle AG, Edwards JH, Hall JG (1994) Mouse homologues of human hereditary disease. J Med Genet 31: 1–19

    Article  PubMed  CAS  Google Scholar 

  86. Sedivy JM, Joyner AL (1992) Gene targeting. Freeman, New York

    Google Scholar 

  87. Shah MB, Guan X, Einstein JR et al. (1994) User’s guide to GRAIL e-mail server and XGRAIL (v.1.2) client server system. Anonymous ftp to arthur.epm.ornl.gov(128.219.9.76) from directory pub/xgrail as file Manual.grail-genquest

    Google Scholar 

  88. Sternberg PW (1993) Intercellular signalling and signal transduction in C. elegans. Annu Rev Genet 27: 497–521

    Article  PubMed  CAS  Google Scholar 

  89. Uberbacher EC, Mural RJ (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor — neural network approach. Proc Natl Acad Sci USA 88: 11261–11265

    Article  PubMed  CAS  Google Scholar 

  90. Ugozzoli L, Wallace B (1992) Application of an allele-specific polymerase chain reaction to the direct determination of ABO blood group genotypes. Genomics 12: 670–674

    Article  PubMed  CAS  Google Scholar 

  91. Verma RS, Babu A (1995) Human chromosomes. Manual of basic techniques, 2nd edn. McGraw-Hill, New York

    Google Scholar 

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

    Book  Google Scholar 

  93. Vortkamp A, Franz T, Gessler M et al. (1992) Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mammal Genome 3: 461–463

    Article  CAS  Google Scholar 

  94. Wilkie TM, Gilbert DJ, Olsen AS et al. (1992) Evolution of the mammalian G protein. a-subunit multigene family. Nature Genet 1: 85–91

    Article  PubMed  CAS  Google Scholar 

  95. Yao SN, Smith KJ, Kurachi K (1994) Primary myoblast-mediated gene transfer: Persistent expression of human factor IX in mice. Gene Ther 1: 99–107

    PubMed  CAS  Google Scholar 

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Langenbeck, U. (1996). Grundlagen der Genetik und Populationsgenetik. In: Mueller-Eckhardt, C. (eds) Transfusionsmedizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-10599-3_6

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