Figure 3.
Segregation of the R1210C mutation in family HUS29. a, Pedigree of family HUS29, illustrating the segregation of the R1210C mutation. Levels of factor H in plasma are indicated for each member of the family. Nonaffected R1210C carriers are shown in gray. Seven SNPs in the factor H gene, including one in the promoter region (−331T/C), were analyzed to determine the segregation of the maternal and paternal factor H alleles in the patient and her sister, but the mother was homozygous for the seven SNPs. b, Western blot analysis of 1 μl of plasma from each HUS29 family member by using the anti–human factor H monoclonal antibody 35H9. Plasma samples are not reduced. The positions of the two factor H bands are indicated with arrows. Notice the decreased levels of both factor H alleles in the patient (IV-1).