Molecular size of factor VIII-related antigen (VIIIR: AG) were studied by SDS 1.5% polyacrylamide gel-crossed immunoelectrophoresis (SDS PAGE-CIE) on patients with various types of von Willebrand's disease (vWd) and their parents.
1. Severe from vWd (3 families): VIIIR: AG in both parents of this form, carriers of heterozygote, showed low precipitin lines corresponding to 4×10
6-1×10
7 of molecular weight. It suggests that polymerizing function of VIIIR: AG exists normally in carrier, though productive function decreases to a half level.
2. Classical form vWd (3 families): In this form, both a proband and one parent were the patients. Though precipitin lines of VIIIR: AG showed low arcs in all patients, they showed full polymerized patterns ranging 4×10
6 to 1×10
7 of molecular size. In regard to molecular weight of VIIIR: AG, there was no differenciation between a carrier of severe form and a patient with classical form.
3. Variant form vWd-Subgroup A (2 families): VIIIR: AG in the proband of Family 7 showed the range of molecular weight between 1×10
6 to 3×10
6 daltons, showing 3 precipitin peaks. But VIIIR: AG in her mother (patient) ranged from 1×10
6 to 4×10
6 daltons, showing 4 peaks. Polymerizing ability of VIIIR: AG, therefore, was not on an appropriate level. On the other hand, the proband of Family 8 and his mother (patient) showed the same findings: precipitin lines with 5 peaks, molecular size of 1×10
6 to 5×10
6 and VIIIR: WF of 0.1 U/m
l.
4. Variant form vWd-Subgroup B (1 family): Molecular weight of VIIIR: AG in both proband and his mother showed a normal range of 1×10
6 to 1×10
7 dalthons. In this group, any defect of VIIIR: WF active site might be inherited dominantly.
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