Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

Human Genetics

Volumn 101, Issue 3, 1997, Pages 323-332

  Schwaab, R ^a   Oldenburg, J ^b   Lalloz, M R A ^c   Schwaab, U ^a   Pemberton, S ^c   Hanfland, P ^a   Brackmann, H H ^a   Tuddenham, E G D ^c   Michaelides, K ^c  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; RESTRICTION ENDONUCLEASE;

ARTICLE; CHEMICAL MISMATCH CLEAVAGE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; EXON; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HEMOPHILIA A; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; MOLECULAR MODEL; PHENOTYPE; POLYADENYLATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FACTOR VIII; HEMOPHILIA A; HUMANS; MODELS, MOLECULAR; MUTATION; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 0031462204     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050636     Document Type: Article

References (39)

1. Abrams ES, Murdaugh ES, Lerman LS (1990) Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 7:463-475
2. Antonarakis SE, Kazazian HH, Tuddenham EGD (1995) Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 5:1-22
3. Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 58: 657-670
4. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, Ronde H de, Velden PA van der, Reitsma PH (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 269:64-67
5. Bidichandani SI, Lanyon WG, Shiach CR, Lowe GDO, Connor JM (1995) Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. Hum Genet 95:531-538
6. Condie A, Eeles R, Borresen A-L, Coles C, Cooper C, Presser J (1993) Detection of point mutations in the p53 gene: comparison of single-strand conformation polymorphism, constant de naturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques. Hum Mutat 2:58-66
7. Cotton RG, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base pair mismatches with hydroxylamine and osmium tetroxide and its applications to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401
8. Dahlbäck B, Carlsson M, Svensson PJ (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90:1004-1008
9. David D, Moreira J, Lalloz MRA, Rosa HAV, Schwaab R, Morals S, Diniz MJ, Deus G de, Campos M, Lavinha J, Johnson D, Tuddenham EGD (1994) Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul Fibrinolysis 5:257-264
10. Dianzani I, Camaschella C, Ponzone A, Cotton RGH (1993) Dilemmas and progress in mutation detection. Trends Genet 9 : 403-405
11. Faber JP, Poller W, Olek K, Baumann U, Carlson J, Lindmark B, Eriksson S (1993) The molecular basis of alphal-antitrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol 18:313-321
12. Fay PJ, Beattie T, Huggins CF, Regan LM (1994) Factor VIII A2 subunit residues 558-565 represent a factor IXa interactive site. J Biol Chem 269:20522-20527
13. Ferec C, Audrezet MP, Mercier B, Guillermit H, Mouiller P, Quere I, Verlingue C (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1:188-191
14. Figueiredo MS, Brownlee GG (1995) CVs-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene. J Biol Chem 270:11828-11838
15. Forrest SM, Dahl HH, Howells DW, Dianzani I, Cotton RG (1991) Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. Am J Hum Genet 49:175-183
16. Ginsburg D, Sadler JE (1993) von Willebrand disease: a database of point mutations, insertions, and deletions. Thromb Haemost 69:177-184
17. Grompe M (1993) The rapid detection of unknown mutations in nucleic acids. Nat Genet 5:111-117
18. Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, EconomouPetersen E, Olek K, Arai M, Inaba H, Kazazian HH JR (1991) Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 88 : 8307-8311
19. Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Millar OJ, Berg WR, Jones HW Jr, Rary JM (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249
20. Lakich S, Kazazian HH Jr, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene as a common case of severe hemophilia. Nat Genet 5:236-241
21. Lapan K A, Fay PJ (1997) Localization of a factor X interactive site in the Al subunit of factor Villa. J Biol Chem 272: 2082-2088
22. 1818 of human blood coagulation factor comprises a binding site for activated factor IX. J Biol Chem 271:1935-1940
23. Lin SW, Lin SR, Shen MC (1993) Characterization of genetic defects of hemophilia A in patients of Chinese origin. Genomics 18:496-504
24. Marquette KA, Pittman DD, Kaufman RJ (1995) A 110-amino acid region within the A1 domain of coagulation factor VIII inhibits secretion from mammalian cells. J Biol Chem 270: 10297-10303
25. McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE (1993) Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics 15:392-398
26. Michaelides K, Schwaab R, Lalloz MRA, Schmidt W, Tuddenham EGD (1995) Mutational analysis: new mutations. In: McPherson MJ, Hames BD, Taylor GR (eds) PCR II-a practical approach. IRL Press, Oxford, pp 255-288
27. Moyret C, Theillet C, Puig PL, Moles J-P, Thomas G, Hamelin R (1994) Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene. Oncogene, 9:1739-1743
28. Myers RM, Maniatis T, Lerman LS (1987) Detection and localisation of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155:501-527
29. Naylor JA, Green PM, Pizza CR, Giannelli F (1993) Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients. Hum Mol Genet 2:11-17
30. Nichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer L, Kauf man RJ, Ginsburg D (1996) Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 88:1183-1187
31. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
32. Pattinson JK, Millar DS, McVey JH, Grundy CB, Wieland K, Mibashan RS, Martinowitz U, Tan-Un K, Vidaud M, Gossens M, Sampietro M, Mannucci PM, Krawczak M, Reiss J, Zoll B, Whitmore D, Bowcock S, Wensley R, Ajani A, Mitchell V, Rizza C, Maia R, Winter P, Mayne EE, Schwartz M, Green PJ, Kakkar VV, Tuddenham EGD, Cooper DN (1990) The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76:2242-2248
33. Pemberton S, Lindley P, Zaitsev V, Card G, Tuddenham EGD, Kemball-Cook G (1997) A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin. Blood 89:2413-2421
34. Schwaab R, Oldenburg J, Tuddenham EGD, Brackmann H-H, Olek K (1993) Mutations in haemophilia A. Br J Haematol 83 : 450-458
35. Schwaab R, Oldenburg J, Schwaab U, Johnson DJD, Schmidt W, Olek K, Brackmann HH, Tuddenham EGD (1995) Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 91:458-464
36. Tuddenham EGD, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani M, Connor JM, Hoyer LW, Yoshioka A, Peake IR, Olek K, Kazazian HH, Lavergne JM, Giannelli F, Antonarakis SE, Cooper DN (1994) Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res 22:3511-3533
37. Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P, Tuddenham EGD (1996) The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucleic Acids Res 24:100-102
38. Walker FJ, Scandella D, Fay PJ (1990) Identification of the binding site for activated protein C on the light chain of factors V and VIII. J Biol Chem 265:1484-1489
39. Wright SD, Michaelides K, Johnson DJD, West NC, Tuddenham EGD (1993) Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard Soulier syndrome: Blood 81:2339-2347