title: Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion.
abstract: Carrier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophilia Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.
authors: Department for Coagulation Disorders, University of Lund, Malmö General Hospital, Sweden.
authors: R
authors: R
authors: Ljung
authors: P
authors: P
authors: Green
authors: E
authors: E
authors: Sjörin
authors: F
authors: F
authors: Giannelli
authors: I M
authors: IM
authors: Nilsson
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005164:Factor IX / Q000235:genetics*; D005260:Female; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion
chemical_list: D009838:Oligodeoxyribonucleotides; D005164:Factor IX; D004247:DNA