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

L P Berg; K Wieland; D S Millar; M Schlösser; M Wagner; V V Kakkar; J Reiss; D N Cooper

doi:10.1007/BF00193593

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.

Authors

L P Berg¹, K Wieland, D S Millar, M Schlösser, M Wagner, V V Kakkar, J Reiss, D N Cooper

Affiliation

¹ Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.

PMID: 2121641
DOI: 10.1007/BF00193593

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.

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

Substances

RNA, Messenger
Factor VIII