Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

Hum Genet. 1990 Oct;85(6):655-8. doi: 10.1007/BF00193593.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Factor VIII / genetics*
  • Hemophilia A / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / analysis*
  • Transcription, Genetic


  • RNA, Messenger
  • Factor VIII