Pedigree, haplotypes, and coagulation and mutation studies.

(Top) Pedigree and haplotype results of the family with female hemophilia B. Haplotype analysis by restriction fragment length polymorphism using the enzyme Dde I demonstrates that the 2 affected sisters, II2 and II3, share a common allele (2/1) with the mother (I2), whereas the normal sister (II1) inherited the mother's other allele (2/2). (Bottom) Coagulation and mutation studies. For each member of the family, F.IXC and F.IXAg are indicated as well as the presence (+) or the absence (−) of each characterized mutation.