Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis
نویسندگان
چکیده
منابع مشابه
Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis.
In this study, we used DNA polymorphisms for carrier detection and prenatal diagnosis of hemophilia A in a large group of Italian families. The restriction fragment length polymorphisms (RFLPs) investigated were the intragenic polymorphic Bc/I site within the factor VIII gene; the extragenic multiallelic Taq I system at the St14 locus; and the extragenic Bg/II site at the DX13 locus. The factor...
متن کاملHaemophilia A: carrier detection and prenatal diagnosis by linkage analysis using DNA polymorphism.
Restriction fragment length polymorphisms (RFLPs) within or close to the factor VIII locus are very useful for genetic linkage analysis. Such RFLPs allow a mutant allele to be tracked in a family, segregating haemophilia A even when, as is usually the case, the precise mutation causing failure to synthesise factor VIII is unknown. To date two markers tightly linked to the factor VIII locus have...
متن کاملPrenatal diagnosis of classic hemophilia (hemophilia A) by immunoradiometric assays.
During the period from 1978 to 1983, 92 pregnancies have been evaluated by fetoscopy for the prenatal diagnosis of hemophilia A. Satisfactory fetal plasma samples were obtained in 80 instances and the diagnosis--or exclusion--of hemophilia was made by immunoradiometric assay of the factor VIII coagulant protein (VIII:CAg). The accuracy of the diagnosis established by fetoscopy has been verified...
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1. Byrd JC, Edenfield WJ, Shields DJ, Dawson NA. Extramedullary myeloid cell tumors in acute nonlymphocytic leukemia: a clinical review. J Clin Oncol 1995; 13:1800-16. 2. Cassi E, Tosi A, De Paoli A, et al. Granulocytic sarcoma without evidence of acute leukemia: two cases of unusual localisation (uterus and breast) and one case with bone localisation. Haematologica 1984; 69:464-6. 3. Martinell...
متن کاملNoninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.
Hemophilia is a bleeding disorder with X-linked inheritance. Current prenatal diagnostic methods for hemophilia are invasive and pose a risk to the fetus. Cell-free fetal DNA analysis in maternal plasma provides a noninvasive mean of assessing fetal sex in such pregnancies. However, the disease status of male fetuses remains unknown if mutation-specific confirmatory analysis is not performed. H...
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ژورنال
عنوان ژورنال: Blood
سال: 1987
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v70.2.531.bloodjournal702531