title: A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.
abstract: Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor IX (FIX) gene by detecting 10/10 previously known FIX gene mutations. The FIX genes of a further 11 haemophilia B patients with unknown mutations were then screened and an abnormal CSGE profile was identified in all cases. Subsequent DNA sequencing demonstrated one of these to be a novel mutation (31133insT, Arg338Fs), the remaining 10 having been previously reported on the haemophilia B database. Mutation screening of the FIX gene using CSGE was demonstrated to be a rapid and efficient means of carrier analysis in families with haemophilia B.
authors: Division of Molecular and Genetic Medicine, University of Sheffield, Royal Hallamshire Hospital.
authors: J L
authors: JL
authors: Hinks
authors: P R
authors: PR
authors: Winship
authors: M
authors: M
authors: Makris
authors: F E
authors: FE
authors: Preston
authors: I R
authors: IR
authors: Peake
authors: A C
authors: AC
authors: Goodeve
mesh_terms: D004587:Electrophoresis, Agar Gel / Q000379:methods; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: D005164:Factor IX