title: Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D005169:Factor VIII