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Mendelsche Erbgänge und monogene Erkrankungen

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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

  • Brock DJH (1993) Molecular genetics for the clinician. Cambridge University Press

    Google Scholar 

  • 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 68:799–808

    Article  PubMed  CAS  Google Scholar 

  • Brown TA (1993) Moderne Genetik. Eine Einführung. Spektrum, Heidelberg

    Google Scholar 

  • Connor JM, Ferguson-Smith MA (1993) Essential medical genetics. Blackwell, Oxford

    Google Scholar 

  • Dietz HC, Pyeritz RE (1995) Mutation in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799–1809

    PubMed  CAS  Google Scholar 

  • 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 37:250–267

    PubMed  CAS  Google Scholar 

  • Hageman RJ (1991) (Hrsg) Fragile X-syndrome. Diagnosis, treatment and research. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Haldane JB (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317–326

    Article  Google Scholar 

  • Hall JG (1988) Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355–363

    PubMed  CAS  Google Scholar 

  • Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857–873

    PubMed  CAS  Google Scholar 

  • Harley HG (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545–546

    Article  PubMed  CAS  Google Scholar 

  • Harper PS (1993) Practical genetic counseling, 4th edn. Butterworth-Heinemann, Oxford

    Google Scholar 

  • Hoffman EP, Brown RH Jr, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy gene. Cell 51:919–928

    Article  PubMed  CAS  Google Scholar 

  • 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 72:971–983

    Article  Google Scholar 

  • Koch M, Grimm T, Helen G et al. (1991) Genetic risk for children of women with myotonic dystrophy. Am J Hum Genet 48:1084–1091

    PubMed  CAS  Google Scholar 

  • Koenig M, Hoffman EP, Bertelson CJ et al. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA. Cell 50:509–517

    Article  PubMed  CAS  Google Scholar 

  • Lubs HA (1969) A marker X chromosome. Am J Hum Genet 21:231–244

    PubMed  CAS  Google Scholar 

  • Lyon MF (1961) Gene action in the X-chromosome of the mouse. Nature 190:372–373

    Article  PubMed  CAS  Google Scholar 

  • McKusick VA (1994) Mendelian inheritance in man, 11th edn. John Hopkins University Press, Baltimore (Online: http://www.ncbi.nlm.nih.gov/Omim/)

    Google Scholar 

  • Monk M, Surani A (1990) (eds) Genomic imprinting. Company of Biologists, Cambridge

    Google Scholar 

  • Nicholls RD (1993) Genomic imprinting and candidate genes in the Prader Willi and Angelman syndromes. Curr Op Genet Devel 3:445–456

    Article  CAS  Google Scholar 

  • 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 252:1097–2002

    Article  Google Scholar 

  • Passarge E (1994) Taschenbuch der klinischen Genetik. Thieme, Stuttgart

    Google Scholar 

  • Paul RM, Motulsky AG (1981) Risk counselling in autosomal disorders with undetermined penetrance. J Med Genet 5:339–345

    Google Scholar 

  • 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 565–578

    Google Scholar 

  • 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 1047–1064

    Google Scholar 

  • Ramirez F (1996) Fibrillin mutations in Marfan’s syndrome and related phenotypes. Curr Opin Genet Dev 6:309–315

    Article  PubMed  CAS  Google Scholar 

  • Riccardi V, Eichner JE (1992) Neurofibromatosis: phenotype, natural history and pathogenesis. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Rimoin DL, Connor JM, Pyeritz RE (eds) (1997) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Riordan JR, Rommens JM, Nerem B et al. (1989) Identification of the cystic fibrosis gen: Cloning and characterisations of complementary DNA. Science 245:1066–1073

    Article  PubMed  CAS  Google Scholar 

  • Roberts RG, Bobrow M, Bentley DR et al. (1992) Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 892:2331–2335

    Article  Google Scholar 

  • Scriver CR, Beaudet AL, Sly W, Valle D (1995) The metabolic and molecular basis in inherited disease, 7th edn. McGraw Hill, New York

    Google Scholar 

  • 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 

  • Strachan T, Read A (1996) Molekulare Humangenetik. Spektrum, Heidelberg

    Google Scholar 

  • 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 38:208–211

    Article  PubMed  CAS  Google Scholar 

  • Tsui L, Buchwald M (1991) Biochemical and molecular genetics of cystic fibrosis. Adv Hum Genet 20:153–266

    Article  PubMed  CAS  Google Scholar 

  • Vogel F, Motulsky AG (1996) Human genetics, problems and approaches, 3rd edn. Springer, Berlin Heidelberg New York Tokyo

    Google Scholar 

  • 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):933–943

    Article  PubMed  CAS  Google Scholar 

  • Weatherall DJ (1988) The new genetics and clinical medicine, 2nd edn. Oxford University Press

    Google Scholar 

  • Witkowski R, Prokop O, Ullrich E (1995) Lexikon der Syndrome und Fehlbildungen, 5. Aufl. Springer, Berlin Heidelberg New York Tokyo

    Book  Google Scholar 

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© 1999 Springer-Verlag Berlin Heidelberg

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Tariverdian, G., Paul, M. (1999). Mendelsche Erbgänge und monogene Erkrankungen. In: Genetische Diagnostik in Geburtshilfe und Gynäkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-58453-4_4

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  • DOI: https://doi.org/10.1007/978-3-642-58453-4_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-63600-4

  • Online ISBN: 978-3-642-58453-4

  • eBook Packages: Springer Book Archive

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