[Detection of hemophilia A carriers by testing polymorphic Bcl I and HINDIII sites using the PCR method with internal splitting control]. / Vyiavlenie nositelei gemofilii A testirovaniem polimorfnykh Bcl I i Hind III saitov metodom PCR s vnutrennim kontrolem rasshchepleniia.

ABSTRACT

A new variant of the PCR test system is discussed which allows one to detect Bcl I and Hind III polymorphic sites of FVIII gene. It can be used for rapid and effective diagnosis of hemophilia A, especially, in combination with the blot-hybridization technique that detects other polymorphic variants of FVIII gene. The method proposed is highly accurate, reliable and simple. It allows one to analyze submicrogram quantities of DNA without using radiolabeled probes. The whole procedure takes several hours. The variant discussed can, possibly, be the part of the general scheme of hemophilia diagnosis completely based on the effective PCR test.