Restriction Fragment Length Polymorphism

  • Mohammad S. Enayat


DNA sequence changes within a gene results either in polymorphism or mutation causing different diseases. Some of these polymorphisms that occur with a high frequency within the population can be a useful tool for gene tracking for a given disease. Such investigations have initially been done by Southern blot techniques, but where possible have now been replaced by polymerase chain reaction (PCR)-based methodology. The nucleotide substitutions can be identified in two ways:
  1. 1.

    By use of restriction enzyme analysis or restriction fragment length polymorphisms (RFLP).

  2. 2.

    Allele specific oligonucleotide hybridization (ASO-H) or similar techniques.



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  1. 1.
    White, G. C. and Shoemaker, C. B. (1989) Factor VIII and haemophilia A. Blood 73, 1–12.PubMedGoogle Scholar
  2. 2.
    Peake, I. (1995) Molecular genetics and counselling in haemophilia. Thromb. Haemost. 74, 40–44.PubMedGoogle Scholar
  3. 3.
    Gitschier, J., Drayna, D., Tuddenham, E. G. D., White, R. L., and Lawn, R. M. (1985) Genetic mapping and diagnosis of haemophilia A achieved through a Bcl I polymorphism in the factor VIII gene. Nature 314, 738–740.PubMedCrossRefGoogle Scholar
  4. 4.
    Gitschier, J., Lawn, R. M., Rotblat, F., and Goldman, E. (1985) Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet 1, 1093–1094.PubMedCrossRefGoogle Scholar
  5. 5.
    Kogan, S. C., Doherty, N., and Gitschier, J. (1987) An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences: application to haemophilia A. New Engl. J. Med. 317, 980–990.CrossRefGoogle Scholar
  6. 6.
    Peake, I. R., Lillicrap, D. P., Boulyjenkov, V., Briet, E., Chan. Ginter, E. M., Kraus, E. M., Ljung, R., Mannucci, P. M., Nicolaides, K., and Tuddenham, E. G. D. (1993) Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coag. Fibrinol. 4, 313–344.CrossRefGoogle Scholar

Copyright information

© Humana Press Inc., Totowa, NJ 2000

Authors and Affiliations

  • Mohammad S. Enayat
    • 1
  1. 1.Department of HaematologyBirmingham Children’s Hospital NHS TrustBirminghamUK

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