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Mendelsche Erbgänge und monogene Erkrankungen

  • Gholamali Tariverdian
  • Marion Paul
Chapter
  • 23 Downloads

Zusammenfassung

Im 19. Jahrhundert gelang es Gregor Mendel, den Erbgang einzelner phänotypischer Merkmale herauszufinden und in Gesetze zu fassen. Die Entdeckungen Mendels gerieten dann allerdings für einige Jahrzehnte in Vergessenheit und wurden erst später wieder entdeckt. Sie besitzen bis heute ihre Gültigkeit.

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Literatur

  1. Brock DJH (1993) Molecular genetics for the clinician. Cambridge University PressGoogle Scholar
  2. Brook JD, McCurrach ME, Harley HG et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotid (CTG) repeat at the 3’ end of a transcript and coding a protein kinase family member. Cell 68:799–808PubMedCrossRefGoogle Scholar
  3. Brown TA (1993) Moderne Genetik. Eine Einführung. Spektrum, HeidelbergGoogle Scholar
  4. Connor JM, Ferguson-Smith MA (1993) Essential medical genetics. Blackwell, OxfordGoogle Scholar
  5. Dietz HC, Pyeritz RE (1995) Mutation in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799–1809PubMedGoogle Scholar
  6. Francke U, Oehs HD, de Martinville B (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod’s syndrome. Am J Hum Genet 37:250–267PubMedGoogle Scholar
  7. Hageman RJ (1991) (Hrsg) Fragile X-syndrome. Diagnosis, treatment and research. Johns Hopkins University Press, BaltimoreGoogle Scholar
  8. Haldane JB (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317–326CrossRefGoogle Scholar
  9. Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355–363PubMedGoogle Scholar
  10. Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857–873PubMedGoogle Scholar
  11. Harley HG (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545–546PubMedCrossRefGoogle Scholar
  12. Harper PS (1993) Practical genetic counseling, 4th edn. Butterworth-Heinemann, OxfordGoogle Scholar
  13. Hoffman EP, Brown RH Jr, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy gene. Cell 51:919–928PubMedCrossRefGoogle Scholar
  14. Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a tri-nucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72:971–983CrossRefGoogle Scholar
  15. Koch M, Grimm T, Helen G et al. (1991) Genetic risk for children of women with myotonic dystrophy. Am J Hum Genet 48:1084–1091PubMedGoogle Scholar
  16. Koenig M, Hoffman EP, Bertelson CJ et al. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA. Cell 50:509–517PubMedCrossRefGoogle Scholar
  17. Lubs HA (1969) A marker X chromosome. Am J Hum Genet 21:231–244PubMedGoogle Scholar
  18. Lyon MF (1961) Gene action in the X-chromosome of the mouse. Nature 190:372–373PubMedCrossRefGoogle Scholar
  19. McKusick VA (1994) Mendelian inheritance in man, 11th edn. John Hopkins University Press, Baltimore (Online: http://www.ncbi.nlm.nih.gov/Omim/)Google Scholar
  20. Monk M, Surani A (1990) (eds) Genomic imprinting. Company of Biologists, CambridgeGoogle Scholar
  21. Nicholls RD (1993) Genomic imprinting and candidate genes in the Prader Willi and Angelman syndromes. Curr Op Genet Devel 3:445–456CrossRefGoogle Scholar
  22. Oberlé I, Rousseau F, Heitz E et al. (1991) Instability of a 55o-base pair DNA segment and abnormal methylation in fragile X-syndrome. Science 252:1097–2002CrossRefGoogle Scholar
  23. Passarge E (1994) Taschenbuch der klinischen Genetik. Thieme, StuttgartGoogle Scholar
  24. Paul RM, Motulsky AG (1981) Risk counselling in autosomal disorders with undetermined penetrance. J Med Genet 5:339–345Google Scholar
  25. Pearn J (1997) Spinal muscular atrophies. In: Rimoin DL, Connor JM, Pyeritz RE (eds) (1997) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, Edinburgh, pp 565–578Google Scholar
  26. Pyeritz R (1997) Marfan’s syndrome. In: Rimoin DL, Connor JM, Pyeritz RE (eds) (1997) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, Edinburgh, pp 1047–1064Google Scholar
  27. Ramirez F (1996) Fibrillin mutations in Marfan’s syndrome and related phenotypes. Curr Opin Genet Dev 6:309–315PubMedCrossRefGoogle Scholar
  28. Riccardi V, Eichner JE (1992) Neurofibromatosis: phenotype, natural history and pathogenesis. Johns Hopkins University Press, BaltimoreGoogle Scholar
  29. Rimoin DL, Connor JM, Pyeritz RE (eds) (1997) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, EdinburghGoogle Scholar
  30. Riordan JR, Rommens JM, Nerem B et al. (1989) Identification of the cystic fibrosis gen: Cloning and characterisations of complementary DNA. Science 245:1066–1073PubMedCrossRefGoogle Scholar
  31. Roberts RG, Bobrow M, Bentley DR et al. (1992) Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 892:2331–2335CrossRefGoogle Scholar
  32. Scriver CR, Beaudet AL, Sly W, Valle D (1995) The metabolic and molecular basis in inherited disease, 7th edn. McGraw Hill, New YorkGoogle Scholar
  33. Smith M, Handa U, He W et al. (1993) Loss of heterozygoty for chromosome 16p13.3 markers in renal hamartomas from tuberous sclerosis patients. Am J Hum Genet 53 [Suppl 66]Google Scholar
  34. Strachan T, Read A (1996) Molekulare Humangenetik. Spektrum, HeidelbergGoogle Scholar
  35. Tariverdian G, Forster-Iskenius U, Wolff G (1991) Mental retardation, acromegalic face and megalotestes in two half-brothers: a specific form of X-linked mental retardation without fragile (X)(q)? Am J Med Genet 38:208–211PubMedCrossRefGoogle Scholar
  36. Tsui L, Buchwald M (1991) Biochemical and molecular genetics of cystic fibrosis. Adv Hum Genet 20:153–266PubMedCrossRefGoogle Scholar
  37. Vogel F, Motulsky AG (1996) Human genetics, problems and approaches, 3rd edn. Springer, Berlin Heidelberg New York TokyoGoogle Scholar
  38. Vogt P, Edelmann A, Kirsch S et al. (1996) Human Y-chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Gen 5 (7):933–943PubMedCrossRefGoogle Scholar
  39. Weatherall DJ (1988) The new genetics and clinical medicine, 2nd edn. Oxford University PressGoogle Scholar
  40. Witkowski R, Prokop O, Ullrich E (1995) Lexikon der Syndrome und Fehlbildungen, 5. Aufl. Springer, Berlin Heidelberg New York TokyoCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Gholamali Tariverdian
    • 1
  • Marion Paul
    • 2
  1. 1.Institut für Humangenetik der Universität Heidelberg Genetische PoliklinikHeidelbergGermany
  2. 2.Gemeinschaftspraxis Drs. med. M. Paul, M. Chwat, M. GastMannheimGermany

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