ECTOPIC TRANSCRIPT ANALYSIS IN HUMAN ANTITHROMBIN DEFICIENCY

Reverse transcription and amplification of total cellular RNA isolated from peripheral blood mononuclear cells has been used to identify cor rectly spliced transcripts for human antithrombin. We have explored th e potential of this technique for identifying the underlying mutation in five individuals with a Type I deficiency and one individual with a Type II deficiency. In each case correctly spliced transcripts of the correct size were obtained, direct sequencing of which clearly demons trated the mutation. This method simplifies the detection of mutations in cases of antithrombin deficiency and further extends the use of ec topic transcript analysis.