Molecular genotyping of the Italian cohort of patients with hemophilia B

Haematologica

Volumn 90, Issue 5, 2005, Pages 635-642

  Belvini, Donata ^a   Salviato, Roberta ^a   Radossi, Paolo ^a   Pierobon, Federica ^a   Mori, Piergiorgio ^b   Castaldo, Giuseppe ^c,d   Tagariello, Giuseppe ^a,e  

^a Castelfranco Veneto Hospital TV   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF MOLISE   (Italy)

^e Ospedale di Castelfranco Veneto   (Italy)

Author keywords

Factor IX gene; Hemophilia B; Mutations

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; BLEEDING TENDENCY; COHORT ANALYSIS; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HEMOPHILIA B; HUMAN; HUMAN CELL; ITALY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIGENE FAMILY; NONSENSE MUTATION; POPULATION GENETICS; PREDICTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

AUTOANTIBODIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; COHORT STUDIES; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FACTOR IX; FEMALE; GENE DELETION; GENETIC SCREENING; GENOTYPE; HEMOPHILIA B; HETEROZYGOTE DETECTION; HUMANS; ITALY; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PRENATAL DIAGNOSIS; PROMOTER REGIONS (GENETICS); RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 20344372906     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Roberts HR. Molecular biology of haemophilia B. Thromb Haemost 1993; 70:1-9.
2. Choo KH, Gould KG, Rees DJ, Brownlee GG. Molecular cloning of the gene for human anti-haemophilic factor IX. Nature 1982;299:178-80.
3. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985; 24:3736-50.
4. Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 2002;55:127-44.
5. Peake IR, Lillicrap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagul Fibrinol 1993;4:313-44.
6. Tartary M, Vidaud D, Piao Y, Costa JM, Bahnak BR, Fressinaud E, et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993;84:662-9.
7. Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, et al. Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations. Thromb Haemost 1999; 82:1437-42.
8. Aguilar-Martinez P, Romey MC, Schved JF, Gris JC, Demaille J, Claustres M. Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. Hum Genet 1994;94:287-90.
9. Ganguly A, Rock MJ, Prockop DJ. Conformation sensitive gel electrophoresis for rapid detection or single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Procl Natl Acad Sci USA 1993;90: 10325-9.
10. Ganguly A, Prockop DJ. Detection of mismatched bases in double stranded DNA by gel electrophoresis. Electrophoresis 1995;16:1830-5.
11. Castaldo G, Nardiello P, Bellitti F, Rocino A, Coppola A, Di Minno G, Salvatore F. Denaturing HPLC procedure for factor IX gene scanning. Clin Chem 2003;49:815-8.
12. Goodeve AC, Preston FE, Peake IR. Factor VIII gene rearrangements in patients with severe haemophilia A. Lancet 1994;343: 329-30.
13. Hinks JL, Winship PR, Makris M, Preston FE, Peake IR, Goodeve AC. A rapid method for haemophilia B method detection using conformation sensitive gel electrophoresis. Br J Haematol 1999;104:915-8.
14. Bowen DJ, Thomas P, Webb CE, Bignell P, Peake IR, Bloom AL. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. Br J Haematol 1991;77:559-60.
15. Graham JB, Kunkel GR, Tennyson GS, Lord ST, Fowlkes DM. The Makno polymorphism of factor IX: establishing tne genotypes by rapid analysis of DNA. Blood 1989;73:2104-7.
16. Winship PR, Rees DJG, Alkan M. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers. Lancet 1989;1:631-4.
17. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut 2000;15:7-12.
18. Bernardi F, Del Senno L, Barbieri R, Buzzoni D, Gambari R, Marchetti G, et al. Gene deletion in an Italian haemophilia B subject. J Med Gen 1985;22:305-7.
19. Hassan BJ, Leonardi A, Guerriero R, Chelucci C, Cianetti L, Ciavarella N, et al. Haemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. Blood 1895;66:728-30.
20. Mukherjee S, Mukhopadhyay A, Chaudhuri K, Ray K. Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene. Haemophilia 2003;9:187-92.
21. Green PM, Montanadon AJ, Bentley DR, Ljung R, Nilsson IM, Giannelli F. The incidence and distribution of CpG-TpG transitions in the coagulation FIX gene. A fresh look at CpG mutational hot-spot. Nucl Acid Res 1990;18:3227-31.
22. Koeberl DD, Bottema CDK, Buerstedde JM, Sommer SS. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet 1994;45:448-57.
23. Ljung RCR. Gene mutations and inhibitor formation in patients with hemophilia B. Acta Heamatol 1995;94:49-52.
24. Tagariello G, Belvini D, Salviato R, Are A, De Biasi E, Goodeve A, et al. Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. Haematologica 2000;85:525-9.
25. Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acid Research 1989;17:3347-58.
26. Costa JM, Emault P, Vidaud D, Meyer D, Lavergne JM. Fast and efficient mutation detection method using multiplex PCR and cycle sequencing. Thromb Haemost 2000;83:244-7.
27. Cutler JA, Mitchell MJ, Smith MP, Savidge GF. Germline mosaicism resulting in the transmission of severe haemophilia B from a grandfather with a mild deficiency. Am J Med Gen 2004;129A:13-5.
28. Taylor SAM, Deugau KV, Lillicrap DP. Somatic mosaicism and female to female transmission in a kindred with haemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 1991;88:39-42.
29. Reitsma PH, Bertina RM, Ploos Van Amstel JK, Riemens A, Briet E. The putative factor IX gene promoter in haemophilia B Leiden. Blood 1988;72:1074-6.
30. Warrier I, Ewenstein BM, Koerper MA. Factor IX inhibitors and anaphylaxis in haemophilia B. J Pediatr Hematol Oncol 1997;19:23-7.
31. Thorland EC, Drost JB, Lusher JM, Warrier I, Shapiro A, Koerper MA, et al. Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the higher risk. Haemophilia 1999;5:101-5.