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A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
Author(s) -
Hinks J. L.,
Winship P. R.,
Makris M.,
Preston F. E.,
Peake I. R.,
Goodeve A. C.
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01274.x
Subject(s) - haemophilia b , haemophilia a , mutation , gene , microbiology and biotechnology , haemophilia , gel electrophoresis , dna , genetics , biology
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.