Two Novel Mutations at 373 Codon of FVIII Gene Detected by DGGE

• References

• 1 Saiki RK, Geefand DH, Stoffel S, Scharf SJ, Higuchi R, Horu GT, Hullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with thermostable DNA polymerase. Science 1988; 239: 487
• 2 Myers R, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods in Enzymology 1987; 155: 501
• 3 Pittman DD, Kaufman RJ. Proteolytic requirements for thrombin activation of antihemophilic factor (factor VIII). Proc Natl Acad Sci USA 1988; 85: 2429-2433
• 4 Abrams ES, Murdaugh SE, Lerman LS. Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and GC clamp. Genomics 1990; 7: 463
• 5 Gyllensten VB, Erlich HA. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. PNAS 1988; 85: 7652
• 6 Tuddenham EGD, Cooper DN, Gitsher J, Higuchu M, Hoyer LW, Yoshioke A, Peake IR, Schwaab R, Olek K, Kazazian HH, Lavergue JH, Giannelli F, Antonarakis SE. Haemophilia A: data base of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucl Acid Res 1991; 19: 4821-4833
• 7 Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian Jr HH, Fujimaki M, Hoyer LW. Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine 372 → histidine). Proc Natl Acad Sci USA 1989; 86: 4277-4281
• 8 O’Brien DP, Dattinson JK, Tuddenham EGD. Purification and characterization of Factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A. Blood 1990; 75: 1664-1672
• 9 Cotton RG, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymidine in single-base pair mismatches with hydroxylanine and osmium tetroxide and its application to the study of muations. Proc Natl Acad Sci USA 1988; 85: 4397-4401
• 10 Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-5467
• 11 Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 2092-2096
• 12 Traystman MD, Higuchi H, Kasper CK, Antonarakis SE, Kazazian Jr HH. Use of denaturing gradient gel electrophoresis to detect point mutations in the Factor VIII gene. Genomics 1990; 6: 293-301