From detailed studies it is now clear that almost 50% of hemophilia A result from inversions [2,4]. Behind the most important rearrangement a common recurrent mechanism is an illegitimate cross-over between a copy of gene F8 A sequence in intron 22 and one of two extragenous but highly ...
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are ...
On the nature and diagnosis of hemophilia: A. J. Quick. Blood 9: 265, September, 1954doi:10.1016/0030-4220(55)90283-8T.J.CElsevier Inc.Oral Surgery Oral Medicine Oral Pathology
,HemostasisandThrombosis:MethodsandProtocols,MethodsinMolecular Biology,vol.1646,DOI10.1007/978-1-4939-7196-1_21,©SpringerScience+BusinessMediaLLC2017 Chapter21 ChromogenicFactorVIIIAssaysforImprovedDiagnosis ofHemophiliaA SusanRodgersandElizabethDuncan Abstract HemophiliaAisaninheritedbleedingdisordercausedbya...
then pregnancy was terminated.Conclusion:Coagulation factor Ⅷ activity detection by umbilical blood sampling under the guidance of ultrasound is a safe and reliable method in prenatal diagnosis of hemophilia A;when the family's mutation information is not clear,it may be the only reliable method ...
Prenatal diagnosis of classic hemophilia (hemophilia A) in mid-trimester was achieved by means of immunoradiometric assays for factor VIII on fetal plasma and amniotic-fluid mixtures obtained by fetoscopy. Samples were analyzed from six male fetuses at risk for severe hemophilia and from nine contro...
Background: It is currently not possible to perform single cell preimplantation genetic diagnosis (PGD) to directly detect the common inversion mutations of the factor VIII (F8) gene responsible for severe hemophilia A (HEMA). As such, PGD for such inversion carriers relies on indirect analysis ...
A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. ... KL Wion,Tuddenham Edward G.D,RM Lawn - 《...
For some families, carrier"s detection was done using this method. The results indicated that RFLP segregation analyses provide a useful method for carrier detection in hemophilia B.P GhandilDd FarhudS ZeinaliA GhadiriIranian Journal of Public Health...
Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A. J. Biomedical reports 5, 228–232 (2016). Article CAS Google Scholar Ott, J., Wang, J. & Leal, S. M. Genetic linkage analysis in the age of whole-genome ...