Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A |
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| Authors: | Hagop Youssoufian Carol K Kasper Deborah G Phillips Haig H Kazazian Jr Stylianos E Antonarakis |
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| Institution: | (1) Genetics Unit, Department of Pediatrics, CMSC 1004, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, 21205 MD, Baltimore, USA;(2) Orthopedic Hospital, University of Southern California, 90007 Los Angeles, CA, USA;(3) Present address: Hematology-Oncology Unit, Massachusetts General Hospital, Harvard Medical School, 02114 Boston, MA, USA |
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| Abstract: | Summary Hemophilia A is an X-linked disease of blood coagulation caused by deficiency of factor VIII. Using cloned cDNA, genomic and synthetic oligonucleotide factor VIII probes, we have identified six novel partial gene deletions in patients with severe hemophilia A. We have previously reported six other deletions of the factor VIII gene. The number of gross molecular defects (deletions, insertions) in the factor VIII gene in our series of 240 patients is 17 (3 insertions and 2 complicated deletions will be described elsewhere). No association was observed between the size or location of the deletions and the presence of inhibitors to factor VIII. No deletion breakpoint  hotspots have been identified by restriction analysis. The parental origin of several of the deletions was determined. |
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