[Molecular biologic study and the factor VIII gene in hemophilia A]. / A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben.

ABSTRACT

Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.