Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA
✍ Scribed by Lutz-Peter Berg; Kerstin Wieland; David S. Millar; Manfred Schlösser; Michael Wagner; Vijay V. Kakkar; Jochen Reiss; David N. Cooper
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 557 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.