Figure 1.

Serum hyaluronidase activity. Serum hyaluronidase degraded the HA that had been incorporated in the gels. The gels were counterstained with Alcian blue before (Upper) or after (Lower) pretreatment with proteases. The regions in which the HA is degraded appear as clear bands against a blue background (white against gray in the photo). Lanes were overloaded with sample (2 μl serum) to demonstrate the complete deficiency of hyaluronidase activity in the proband in this assay system. Use of 0.2–1 μl of serum provides optimal discrimination of heterozygotes. Lanes are labeled with the numbers that correspond to the pedigree above.