title: Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.
abstract: 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.
authors.affiliation: Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.
authors.forename: L P
authors.initials: LP
authors.lastname: Berg
authors.forename: K
authors.initials: K
authors.lastname: Wieland
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: M
authors.initials: M
authors.lastname: Schlösser
authors.forename: M
authors.initials: M
authors.lastname: Wagner
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: J
authors.initials: J
authors.lastname: Reiss
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: 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
chemical_list: D012333:RNA, Messenger; D005169:Factor VIII