title: Ectopic transcript analysis in human antithrombin deficiency.
abstract: Reverse transcription and amplification of total cellular RNA isolated from peripheral blood mononuclear cells has been used to identify correctly spliced transcripts for human antithrombin. We have explored the 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 demonstrated the mutation. This method simplifies the detection of mutations in cases of antithrombin deficiency and further extends the use of ectopic transcript analysis.
authors.affiliation: Department of Haematology, University of Cambridge, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
mesh_terms: D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D001483:Base Sequence; D018076:DNA, Complementary / Q000737:chemistry; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis*; D012194:RNA-Directed DNA Polymerase; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D000990:Antithrombin III; D012194:RNA-Directed DNA Polymerase