Lack of deletion of complement C4 and steroid 21-hydroxylase genes in Japanese patients with primary Sjögren's syndrome.

A null allele at C4A (C4AQO) is associated with primary Sjögren's syndrome (SS) in Japanese. Since a deletion of the C4A and CyP21A genes is reported to account for C4AQO in patients with systemic lupus erythematosus (SLE) in Caucasians, we studied the restriction fragment length polymorphism (RFLP) of genomic DNA to determine whether similar deletions of the C4A and CyP21A genes occur in Japanese patients with SS. Patients with C4AQO did not show the extensive deletion of C4A and CyP21A, which would be recognized by the appearance of 8.5 kb/HindIII and 6.4 kb/TaqI fragments hybridizing with a C4 probe. It is yet to be shown whether the lack of expression of C4A genes in Japanese patients with primary SS is due to point mutations, or to small deletions or insertions that were not detected by the RFLP approach.