A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis

Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effec tive procedure for screening the factor TX (FIX) gene by detecting 10/10 pr eviously known FM gene mutations. The FD: 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 1 0 having been previously reported on the haemophilia B database. Mutation s creening of the FM gene using CSGE was demonstrated to be a rapid and effic ient means of carrier analysis in families with haemophilia B.