Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype.

The Frequencies of three Factor IX-Linked Restriction Fragment Length Polymorphisms in Iranian Patients with Hemophilia B

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency.  Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...

Efficiency of BclI Restriction Fragment Length Polymorphism for Detection of Hemophilia A Carriers in Sistan and Baluchestan Province, Southeast of Iran

Background: Indirect genetic diagnosis using polymorphic DNA markers can detect carriers of hemophilia A. This technique is preferable in developing countries because of its simplicity and cost effectiveness compared to direct mutation analysis. In the present study, we examined usefulness of intragenic marker BclI restriction fragment length polymorphism (RFLP) at intron 18, for carrier detect...

Carrier Detection in Hemophilia A : A Cooperative International Study

Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia “A.” Plasma levels of factor VIII (F.VIlI:C. formerly VIII:C) and von Willebrand factor (VWF:Ag. formerly VIIIR:Ag) of carriers and normal women were determined by various “in-house” methods; a single lyophilized plasma standard was used for all assays. Analy...

Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing

Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant.

Factor VIII (F.VIII) and von Willebrand factor (VWF):Ag data collected by eight laboratories on a total of 336 obligatory carriers of hemophilia A and 137 normal women were used to answer several questions concerning the construction of linear discriminants for carrier detection. It was found: that a "universal" linear discriminant can be constructed which is suitable for use in all laboratorie...