Objective. To localize the gene for familial recurrent arthritis via a geno
me-wide linkage scan in an extended kindred with the disease.
Methods. A 3-generation family in which 9 members were diagnosed with juven
ile idiopathic arthritis (JIA) was ascertained. In this family the disease
was of very early onset and included episodic inflammation leading to event
ual destruction of joints, muscle, and skin. We treated this disorder as a
distinct clinical entity that we have named "familial recurrent arthritis."
A genome-wide linkage scan with polymorphic microsatellites at 10-15-cM re
solution was initiated.
Results. The genome-wide scan generated a maximum 2-point logarithm of odds
score with D15S211 (Z(max) = 3.27 at theta(max) = 0.0010). Haplotype recon
struction defined a candidate region of similar to 20 cM flanked proximally
by D15S983 and distally by D15S127 on human chromosome 15.
Conclusion. A gene for familial recurrent arthritis was localized to 15q22-
24, as a result of a genome-wide linkage scan in a large, multiply affected
kindred. Identification of the altered gene will provide insights into the
pathogenesis of autoimmune joint destruction that is reminiscent of JIA.