Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing

Thrombosis Research

Volumn 120, Issue 1, 2007, Pages 135-139

  Karimipoor, Morteza ^a   Zeinali, Sirous ^a   Nafissi, Nafiseh ^a   Tuddenham, Edward G D ^b   Lak, Manijeh ^c   Safaee, Reza ^c  

^a PASTEUR INSTITUTE OF IRAN   (Iran)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Carrier testing; Haemophilia B; Mutation; Sequencing; SSCP

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; COAGULATION FACTOR IX GENE; CONTROLLED STUDY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; HEMOPHILIA B; HUMAN; IRAN; MAJOR CLINICAL STUDY; MIGRATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; FACTOR IX; GENOTYPE; HEMOPHILIA B; HUMANS; IRAN; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 34247130102     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2006.07.011     Document Type: Article

References (25)

1. Giannelli F., Saad S., Montandon A.J., Bentley D.R., and Green P.M. A new strategy for the genetic counseling of diseases of marked mutational heterogeneity: haemophilia B as a model. J Med Genet 29 (1992) 602-607
2. Lillicrap D. The molecular basis of haemophilia B. Haemophilia 4 (1998) 350-357
3. Yoshitake S., Shach B.G., Foster D.C., Davie E.W., and Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24 (1985) 3736-3750
4. Giannelli F., Green P.M., Sommer S.S., Poon M.C., Ludwig M., Schwaab A., et al. Haemophilia B: database of point mutations and short deletions and deletions - eighth edition. Nucleic Acid Res 26 (1998) 270-273
5. Bowen D.J. Haemophilia a and haemophilia B: molecular insights. J Clin Pathol 55 (2002) 1-18
6. Costa J.M., Ernault P., Vidaud D., Vidaud M., Meyer D., and Lavergne M. Fast and efficient mutation detection method using multiplex PCR and cycle sequencing. Thromb Haemost 83 (2000) 244-247
7. Vidal F., Farssac E., Altisent C., Puig L., and Gallardo D. Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations. Br J Haematol 111 (2000) 549-551
8. Montejo J.M., Magallon M., Tizzano E., and Solera J. Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. Human Mutat 13 (1999) 160-165
9. Enayat M.S., Karimi M., Chana G., Farjadian S., Theophilus B.D.M., and Hill F.G.H. Mutation analysis in F9 gene of the 17 families with haemophilia B from Iran. Haemophilia 10 (2004) 751-755
10. Fraser B.M., Poon M.C., and Hoar D.I. Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis. Hum Genet 88 (1992) 426-430
11. Ghanem N., Costes B., Martin J., Vidaud M., Rothschild C., Foyer-Gazengel C., et al. Twenty-four novel haemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample. Eur J Hum Genet 1 (1993) 144-155
12. Hinks J.L., Winship P.R., Markis M., Preston F.E., Peak I.R., and Goodeve A.C. A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis. Br J Haematol 104 (1999) 915-918
13. Castaldo G., Nardiello P., Bellitti F., Rocino A., Coppola A., di Minno G., et al. Denaturing HPLC procedure for factor IX gene scanning. Clin Chem 49 5 (2003) 815-818
14. Ghandil P., Ghadiri A., Farhoud D., and Zeinali S. Allele frequency of two polymorphisms associated with the factor IX gene in Iranian population. Thromb Res 113 (2004) 289-3
15. Karimipoor M., Zeinali S., Lak M., and Safaee R. Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family. Haemophilia 9 (2003) 116-118
16. Sambrook J., and Russel D.W. Molecular cloning: a laboratory manual. 3rd ed (2001), Cold Spring Harbor, New York
17. Goodeve A.C. Advances in carrier detection in haemophilia. Haemophilia 4 (1998) 358-364
18. Manno C.S., Chew A.J., Hutchinson S., Larson P.J., Herzog R.W., Arruda V.R., et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe haemophilia B. Blood 101 (2003) 2963-2972
19. Ljung R.C.R. Gene mutations and inhibitor formation in patients with hemophilia B. Acta Hematol 94 (1995) 49-52
20. Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G. Molecular genotyping of the Italian cohort of patients with hemophilia B. 2005;90:635-42.
21. Oldenburg J., Schroder J., Hermann Brackmann H., Muller-Reible C., Schwaab R., and Tuddenham E. Environmental and genetic factors influencing inhibitor development. Semin Hematol 41 1 Suppl 1 (2004) 82-88
22. Yee T.T., Williams M.D., Hill F.g., Lee C.A., and Pasi K.J. Absence of inhibitors in previously untreated patients with severe haemophilia A after exposure to a single intermediate purity factor VIII product. Thromb Haemost 78 (1997) 1027-1029
23. Mauser-Bunschoten E.P., van der Bom J.G., Bongers M., Twijnstra M., Roosendaal G., Fischer K., et al. Purity of factor VIII product and incidence of inhibitors in previously untreated patients with haemophilia A. Haemophilia 7 (2001) 364-368
24. Cotton R.G.H. Mutation detection 2001: novel technologies, developments and applications for analysis of the human genome. Hum Mutat 19 (2002) 313-314
25. 2 subunit of factor VIIIa. J Biol Chem 11 276 (2001) 16302-16309