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Review Recent advances in the molecular analysis of inherited disease

  • Susan Malcolm
Part of the European Journal of Biochemistry book series (EJB REVIEWS, volume 1990)

Abstract

Many important human genes have been cloned during the last ten years. In some cases, using reverse genetic techniques [Orkin, S. H. (1986) Cell 47, 845 – 850], disease-causing genes have been isolated whose product was previously unknown. Important examples include the dystrophin protein which, when mutated, gives rise to either Duchenne or Becker muscular dystrophy [Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Cell 50, 509–517; Monaco, A. P., Bertelson, C. J., Liechti Gallati, S., Kunkel, L. M. (1988) Genomics 2, 90–95; Koenig, M., Monaco, A. P., Kunkel, L. M. (1988) Cell 53, 219-228] and the cystic fibrosis transmembrane conductance regulator (CFTR) [Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Ianuzzi, M. C., Collins, F. S,. Tsui, L.-C. (1989) Science 245, 1066–1073]. Recently the technology for systematically detecting single base-pair changes by chemical methods, enzymatic methods or direct DNA sequencing has greatly expanded and simplified. In addition to providing structural information about these clinically important genes and information on disease-causing mutations, these studies have led to an increased understanding of mechanisms of mutation, to the discovery of novel genetic mechanisms and to important clinical applications of carrier detection and pre-natal diagnosis. The recent rapid progress has been made possible by the development of DNA amplification using the polymerase chain reaction (per) invented by Saiki and colleagues [Saiki, R. K., Chang, CA., Levenson, C. H., Warren, T. C., Boehm, C. D., Kazazian, H. H., Ehrlich, H.A. (1988) N. Engl. J. Med. 319, 537–541].

Keywords

Cystic Fibrosis Muscular Dystrophy Cystic Fibrosis Transmembrane Conductance Regulator Osteogenesis Imperfecta Duchenne Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

per

polymerase chain reaction

CFTR

cystic fibrosis transmembrane regulator

DGGE

denaturing gradient gel electrophoresis

RFLF

altered length fragment

HPRT

hypoxanthine phosphoribosyl transferase.

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Copyright information

© FEBS 1990

Authors and Affiliations

  • Susan Malcolm
    • 1
  1. 1.Mothercare Department of Paediatric GeneticsInstitute of Child HealthLondonEngland

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