A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor.
We describe a novel gross deletion of the factor VIII gene in 5 related patients with severe hemophilia A. The deletion extends from intron 15 to at least 8.5 kb beyond the 3' end of the gene (at least 95 kb of extension), and is associated with variable levels of FVIII inhibitor in 4 of the patients. The carrier detection in the family was based on the abnormal restriction pattern of the partially deleted gene.
Figueiredo
M S
MS
Department of Clinical Medicine, School of Medicine, Ribeirao Preto, Brazil.
Bernardi
F
F
Zago
M A
MA
D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015245:Deoxyribonuclease BamHI / Q000378:metabolism; D015246:Deoxyribonuclease EcoRI / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005169:Factor VIII / Q000037:antagonists & inhibitors / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization
D005169:Factor VIII; D004247:DNA; D015245:Deoxyribonuclease BamHI; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases