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Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene |
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| Authors: | C. ONONYE B.S.c. P.V. JENKINS M.Sc. E. GOLDMAN M.B. BCh. K. J. PASI P.h. D. M.R.C.P.M.R.C.Path |
| Affiliation: | Clinical Scientist, The Katherine Dormandy Haemophilia Centre, Department of Haematology, Royal Free Hospial and School of Medicine, London.;MLS03, The Katherine Dormandy Haemophilia Centres, Department of Haematology, Royal Free Hospital and School of Medicine, London.;Associate Specialist, The Katherine Dormany Haemophilia Centre, Department of Haematology of Royal Free Hospital and School of Medicine, London.;Consultant, The Katherine Dormandy Haemophilia Centre, Department of Haematology, Royal Free Hospital and School of Medicine, London NW3 2QG.* |
| Abstract: | Summary In approximately 50% of severe haemophilia A patients the mutation is present in the form of a large chromosomal disruption in the factor VIII gene; this disruption is described as an inversion. It results in the physical breakage and separation of exons 1-2 and exons 23-26 of the factor VIII gene. |
| Keywords: | haemophilia A mutation analysis inversion intron 22 prenatal |