Factor VIII gene explains all cases of haemophilia A.
Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster of mutations involving regions of intron 22 not examined earlier leads to defective joining of exons 22 and 23 in the mRNA and caused haemophilia A in 10/24 severely affected UK patients.
Division of Medical & Molecular Genetics, United Medical School, Guy's Hospital, London, UK.
J A
JA
Naylor
P M
PM
Green
C R
CR
Rizza
F
F
Giannelli
D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics
D012333:RNA, Messenger; D005169:Factor VIII