Keywords
hemophilia B
factor IX
factor VIII
molecular diagnosis
carrier detection
hemofilia A
hemofilia B
factor IX
factor VIII
diagnóstico molecular
detección de portadores
How to Cite
Abstract
Hemophilia Aand B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers.References
Ahrens, P., T.A. Kruse, M. Schwarty, P.B. Rasmussen & N. Din. 1987. A new HindIII restriction fragment length polymorphism in the Hemophilia A locus. Hum. Genet. 76: 127-128.
Chan, V., T.N. Tong & T.P. Chan. 1989. Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A. Br. J. Haematol. 73: 497-500.
Chistolini, A., M. Papacchini, M.G. Mazzucconi, G. La Verde, R. Arcieri, A. Ferrari, R. Paesano, A. Pachi & G. Mariani. 1990. Carrier detection and prenatal diagnosis in Haemophilia A and B. Hematology 75: 424-428.
Forbes, C.D., L.M. Aledort & R. Madhok. 1997. Hemophilia. Chapman Hall Medical. London. pp. 3-143.
Furie, B. & B. Furie. 1990. Hemophilia basis of Hemophilia. Sem. Hematol. 27: 270-285.
Giannelli, F., D.S. Anson, K.H. Choo, D.J. Ress, P.R. Einship, N. Ferrari, C.R. Rizza & G.G. Brownlee. 1984. Characterization and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet 1 (8371): 239-241.
Gitschier, J., W.I. Wood, T.M. Goralka, K.L. Wion, E.Y. Chen, D.H. Eaton, G.A.Vehar, D.J. Capon & R.M. Lawn. 1984. Characterization of the human factor VIII gene. Nature 312: 326-330.
Harper, K., M.E. Pembrey, R.M. Winter, D. Hartley & E.G.D. Tuddenham.1984. A clinically useful DNA probe closely linked to haemophilia A. Lancet 2 (8393): 6-8.
Herrmann, F.H. & I. Scharrer.1999. Humangenetische Beratung bei Hämophilie A und B. pp. 3-33. In Deutsche Hämophiliegesellschaft (eds.). Mitteilungen der Deutschen Hämophiliegesellschaft zur Bekämpfung von Blutungskrankheiten, Hamburg. Herrmann, F.H., M. Wehnert, W. Schröder & K. Wulff. 1990. Genomic diagnosis of Hemophilia A and B. Thromb. Haemorrh. Disorders 2(1): 11-15.
Herrmann, F.H. & K. Wulff. 1998. Molekulare Genanalyse und Geniagnostik bei Hämophilie B und FVII Mangel. Hämostaseologie 3: 129-139.
INEC-CCP. Costa Rica: estimaciones y proyecciones de población actualizadas al año 2000. Período 1970- 2050. San José, Instituto Nacional de Estadística y Censos y Centro Centroamericano de Población, Universidad de Costa Rica. (En prensa).
Kogan, S.C., M. Doherty & J. Gitschier. 1987. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to Hemophilia A. N. Engl. J. Med. 317: 985-990.
Lakich, D., H. Kazazian, S.E. Antonarakis & J. Gitschier. 1993 Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5: 236-241.
Miller, S.A., D.D. Dykes & H.F. Polesky. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16: 1215.
Oberle I., G. Camerino, R. Heilig, L. Grunebaum, J.P. Cazenave, C. Crapanzano, P.M. Mannucci & J.L. Mandel. 1985. Genetic screening for haemohilia A with a polymorphic DNA probe. N. Engl. J. Med. 312: 682-686.
Pattinson, J.K., D.S. Millar, J.H. McVery, C.B.Grundy, K. Wieland & R.S. Misbashan. 1990. The molecular genetic analysis of Hemophilia A: A directed search strategy for the detection of point mutation in the human factor VIII gene. Blood 76: 2242-2248.
Peake, I. 1992. Registry of DNA Polymorphisms within or close to the Human Factor VIII and IX Genes. Thromb. Haemost. 67: 277-280.
Wehnert, M., W. Schröder & F.H. Herrmann. 1991. Two new markers at DXS 115 useful for genomic diagnosis in haemophilia A. Thromb. Haemorrh. Disorders 3(1): 21-24.
Wehnert, M., E.L. Shukova, V.I. Surin, W. Schroder, Solovjev Gya & F.H. Herrmann. 1990. Prenatal diagnosis of haemophilia by the polymerase chain reaction using the intragenic Hind III polymorphism. Prenatal Diagnosis 10: 529-532.
Winship, P.R., D.S. Anson, C.R. Rizza & G.G. Brownlee. 1984. Carrier detection in haemophilia B using two futher intragenic restriction fragment length polymorphisms. Nucleic Acid Res. 12: 8861-8872.
Winship, P.R., D.J. Rees & M. Alkan. 1989. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers. Lancet 1(8639): 631-634.
Wion, K.L., E.G.D. Tuddenham & R.M. Lawn. 1986. A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A. Nucleic Acid Res. 14: 4535-4542.
Wulff, K., K. Bykowska, S. Lopaciuk & F.H. Herrmann. 1999. Molecular analysis of Hemophilia B in Poland: 12 novel mutations of the factor IX gene. Acta Biochim. Polonica. 721-726.
Wulff, K., U. Ebener, Ch-S. Wehnert, P.A. Ward, U. Reuner, W. Hiebsch, F.H. Herrmann & M. Wehnert. 1997. Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heterodeplex analysis. Dis. Markers 13: 77-86.
Wulff, K., W. Schröder, M. Wehnert & F.H. Herrmann. 1995. Twenty-five novel mutations of the factor IX gene in haemophilia B. Human Mutat. 6: 346-348.
Wulff, K., W. Schröder, M. Wehnert & F.H. Herrmann. 2003. Molecular Analysis of Hemophilia B: Greifswald Registry FIX deficiency (HemophiliaB). pp.35-48 In I.III. Scharrer, W. Schramm (eds.). 32nd Hemophilia Symposium Hamburg 2001. Springer, Berlin.
Yoshitake, S., B.G. Schach, D.C. Foster, E.W. Davie & K. Kurachi. 1985. Nucelotide sequence of the gene of human factor IX ( haemophilic factor B). Biochem. 24: 3736-3750.
Comments
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2004 Revista de Biología Tropical