Abstract
Screening of the factor VIII (FVIII) gene which spans 186 kb and codes for 26 exons, was originally hampered by its size but is now feasible because rapid DNA scanning methodologies have been developed. The present study for the first time directly compares the three most widely applied screening methods, denaturing gradient gel electrophoresis (DGGE), single-stranded conformational polymorphism (SSCP) and chemical mismatch cleavage (CMC) for their sensitivity of mutation detection in a selected group of ten haemophilia A patients. Nine of these patients are known to be cross-reacting material positive and eight exhibited a mild to moderate phenotype. Of the ten patients screened, we identified mutations in nine by all three screening methods. Of the mutations characterised, two are previously unpublished. T to C (S373P) and G to A (D525N). In one mildly affected haemophiliac, we identified a second T to C sequence change in the 5' untranslated region at -601 bp, probably having no effect on FVIII gene expression. Modelling studies were performed on those mutations lying within the A domains of FVIII (D525N, R527W, I566T) to study the possible effect of these mutations on structure and/or function. When the three methods are pe...Continue Reading
Citations
Feb 5, 1999·Electrophoresis·S JaeckelC Epplen
Jan 26, 2008·Molecular Biotechnology·V Konstantinos KakavasV Argiris Noulas
Apr 3, 2002·Thrombosis Research·Akihiro SawadaEizo Kakishita
Jan 14, 1999·British Journal of Haematology·M LiuA R Thompson
Dec 22, 1999·British Journal of Haematology·R D BagnallF Giannelli
Jul 11, 2000·British Journal of Haematology·R SchwaabJ Ingerslev
Feb 13, 2001·British Journal of Haematology·S R LinM C Shen
Jul 10, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·M AcquilaM P Bicocchi
Sep 14, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·A A TimurS H Caglayan
Aug 31, 2002·Vox Sanguinis·E L SaenkoS Pipe
Mar 24, 2004·BMC Blood Disorders·Rumena PetkovaIvo Kremensky
May 1, 2008·Indian Journal of Human Genetics·M ChettaM Margaglione
Jun 20, 2001·Analytical Biochemistry·S DungerS Sickinger
Jul 6, 2014·Analytical and Bioanalytical Chemistry·Tzu-Yu PanShou-Mei Wu
Sep 1, 1999·British Journal of Haematology·P H CelieK Mertens
Jan 24, 2014·Thrombosis and Haemostasis·Anna PavlovaJohannes Oldenburg
Jan 12, 2013·Thrombosis and Haemostasis·Rainer SchwaabJohannes Oldenburg
Aug 9, 2005·Human Mutation·Nadja BogdanovaJürgen Horst
May 6, 2008·Animal Genetics·M B BrooksJ G Booth
Feb 8, 2006·Journal of Thrombosis and Haemostasis : JTH·J R HarrawayP M George
Jan 26, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·A PavlovaJ Oldenburg
Aug 2, 2006·Journal of Thrombosis and Haemostasis : JTH·E BerberD Lillicrap
Sep 15, 2006·Human Mutation·Nadja BogdanovaJürgen Horst
Jun 19, 2001·American Journal of Human Genetics·M LeuerK Olek
Apr 19, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Giuseppe CastaldoFrancesco Salvatore
May 13, 2010·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Nuzhat Jahan FaridiR N K Bamezai
Aug 3, 2017·Terapevticheskiĭ arkhiv·G M GalstyanV G Savchenko
Jul 20, 2021·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Amir ValikhaniMinoo Ahmadinejad