Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.
Specifically-primed reverse transcripts of lymphocyte-derived factor VIII (FVIII) mRNA were successfully amplified by means of the polymerase chain reaction (PCR) thus further extending the phenomenon of ectopic ("illegitimate") transcription of tissue-specific genes. The diagnostic potential of a basal rate of transcription in non-expressing tissues was then demonstrated by the detection of a novel point mutation in the FVIII gene causing haemophilia A by PCR/direct sequencing of ectopically transcribed mRNA derived from patient lymphocytes.
Berg
L P
LP
Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.
Wieland
K
K
Millar
D S
DS
Schlösser
M
M
Wagner
M
M
Kakkar
V V
VV
Reiss
J
J
Cooper
D N
DN
D001483:Base Sequence; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis*; D014158:Transcription, Genetic
D012333:RNA, Messenger; D005169:Factor VIII