Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.
A splicing defect with 201 nucleotide deletion in the factor VIII transcript due to IVS15 + 1G > T mutation inactivating this donor splice site and activating a cryptic acceptor splice site in exon 16 was identified in a severe haemophilia A patient. Allele specific amplification (ASA) method was successfully developed for direct detection of this mutation.
Yenchitsomanus
P
P
Thanootarakul
P
P
Akkarapatumwong
V
V
Oranwiroon
S
S
Pung-Amritt
P
P
Veerakul
G
G
Mahasandana
C
C
D000483:Alleles; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005192:Family Health; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion
D012333:RNA, Messenger; D005169:Factor VIII