Abstract
For a number of years the estimation of gene product (Factor VIII) concentrations was used for genotype assignment in potential carriers as well as in prenatal diagnosis of hemophilia A. The difficulty with this method for carrier testing is the probabilistic nature of the result. The Factor VIII assay is converted into a likelihood ratio favouring carriership and this ratio is combined with the genetic chance to yield a final probability of carriership [1–3]. In practice, however, it is very difficult for the women to base their decisions on this kind of information.
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Briët E, Bröcker-Vriends AHJT, Quadt R et al. Onderzoek naar draagsterschap van hemofilie B met behulp van restrictie-fragmentlengte-polymorfisme. Ned Tijdschr Geneeskd 1985;129:937–40.
Graham JB, Rizza CR, Chediak J et al. Carrier detection in hemophilia A: A cooperative international study. I. The carrier phenotype. Blood 1986;67: 1554–9.
Green PP, Mannucci PM, Briët E et al. Carrier detection in hemophilia A: A cooperative international study. II. The efficacy of a universal discriminant. Blood 1986;67:1560–7.
Mibashan RS, Rodeck CH, Thumpston JK. Prenatal diagnosis of the hemophilias. In: Bloom AL (ed). Methods in hematology: The hemophilias. Churchill Livingstone, Edinburgh 1982:176–97.
Orkin SH, Little PFR, Kazazian HH Jr, Boehm CD. Improved detection of the sickle mutation by DNA analysis. N Engl J Med 1982;307:32.
Kidd VJ, Golbus MS, Wallace RB, Kakura K, Woo SLC. Prenatal diagnosis of α1-antitrypsin deficiency by direct analysis of the mutation site in the gene. N Engl J Med 1984;310:639–42.
Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RM. Genetic mapping and diagnosis of hemophilia A achieved through a Bc-II polymorphism in the factor VIII gene. Nature 1985;314:738–40.
Wion KL, Tuddenham EGD, Lawn RM. A new polymorphism in the Factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res 1986;11:4535–42.
Antonarakis SE, Waber PG, Kittur SD et al. Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med 1985;313: 842–8.
Oberlé I, Camerino G, Heilig R et al. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N Engl J Med 1985;312: 682–6.
Harper K, Pembrey ME, Davies KE, Winter RM, Hartley D, Tuddenham EGD. A clinically useful DNA probe closely linked to hemophilia A. Lancet 1984;ii:6–8.
Peake IR, Bloom AL. Recombination between genes and closely linked polymorphisms. Lancet 1986;i:1335–6.
Bröcker-Vriends AHJT, Briët E, Quadt R et al. Genotype assignment of hemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms. Thromb Haemostas 1987;57:131–6.
Bröcker-Vriends AHJT, Briët E, Kanhai HHH et al. First trimester prenatal diagnosis of hemophilia A. Two years experience. Prenatal Diagn 1988. In press.
Graham JB. Genotype assignment (carrier detection) in the hemophilias. Clin in Haematol 1979;8:115–45.
Bakker E, van Broeckhoven Ch, Bonten EJ et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 1987;329:554–6.
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© 1988 Kluwer Academic Publishers, Boston
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Briët, E., Bröcker-Vriends, A.H.J.T. (1988). Use of Gene Probes for Carrier Detection and Prenatal Diagnosis in Hemophilia A. In: Sibinga, C.T.S., Das, P.C., Overby, L.R. (eds) Biotechnology in blood transfusion. Developments in Hematology and Immunology, vol 21. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1761-6_18
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DOI: https://doi.org/10.1007/978-1-4613-1761-6_18
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