Genetic Diseases



The application of recombinant DNA technology to human genetics has advanced our knowledge of inherited diseases immensely. Classical genetics was very limited in its ability to probe the complexity of the human genome. The famous genetic breeding experiments in viruses, bacteria, yeast, slime mold, and fruit flies taught us a great deal about genetics in general. However, applying classical genetics to human diseases was limited by our scant knowledge of human genes. Some people doubted that the science of human genetics would ever make much progress.* Recombinant DNA technology and genetic mapping have opened the very complex human genome to direct study.


Cystic Fibrosis Sickle Cell Anemia Sickle Cell Fabry Disease Crime Scene 
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  1. Antonarakis SE (1989) Diagnosis of genetic disorders at the DNA level. N Engl J Med 320: 153–163.PubMedCrossRefGoogle Scholar
  2. Budowle B, Baechtel FS, Giusti AM, Monson K (1990) Applying highly polymorphic variable number of tandem repeats loci genetic markers to identity testing. Clin Biochem 23: 287–293.PubMedCrossRefGoogle Scholar
  3. Cann RL, Stoneking M, Wilson AC (1986) Mitochondrial DNA and human evolution. Nature 325: 31–36.CrossRefGoogle Scholar
  4. Chang JC, Kan YW (1982) A sensitive new prenatal test for sickle cell anemia. N Engl J Med 307: 30–32.PubMedCrossRefGoogle Scholar
  5. Cohen J (1994) Will molecular data set the stage for a synthesis? Science 263: 758.PubMedCrossRefGoogle Scholar
  6. Gelehrter TD, Collins FS (1990) Principles of Medical Genetics. Williams and Wilkins, Baltimore.Google Scholar
  7. Highsmith WE, Chong GL, Orr HT, Perry TR, Schaid D, Farber R, Wagner K, Knowles MR, Warwich WJ, Silverman LM, Thibodeau SN (1990) Frequency of the Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study. Clin Chem 36: 1741–1746.PubMedGoogle Scholar
  8. Kirby LT (1990) DNA Fingerprinting. Stockton Press, NYGoogle Scholar
  9. Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovith EP, O’Brien WE, Riordan JR, Collins FS, Tsui L, Beaudet AL (1990) Mutation analysis for hetero-zygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med 322: 291–296.PubMedCrossRefGoogle Scholar
  10. Pauling L, Itano HA, Singer SJ, Well IC (1949) Sickle cell anemia, a molecular disease. Science 110: 543–548.PubMedCrossRefGoogle Scholar
  11. Shibata D (1993) Identification of mismatched fixed specimens with a commercially available kit based on the polymerase chain reaction. Am J Clin Pathol 100: 666–670.PubMedGoogle Scholar
  12. Wertz DC, Fanos JH, Reilly PR (1994) Genetic testing for children and adolescents. JAMA 272: 875–881.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  1. 1.The School of Medicine, Department of PathologyUniversity of North Carolina at Chapel HillChapel HillUSA
  2. 2.Department of PathologyForsyth Memorial HospitalWinston-SalemUSA

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