Figure 1.

Pedigree of the family segregating for OPD2. Unblackened circle, unaffected female; gray circle, subclinically affected female; blackened circles, clinically manifesting female; and blackened square, affected male. Haplotypes are depicted for markers located in the distal region of Xq, and the segment that segregates perfectly with the disease is boxed. Individual III-8 is known to have a different father from her female siblings. Genotypes for the locus BGN represent a combination of results obtained from DXSBGN and the novel SNP identified in intron 5. The locus 2–19 is a novel marker identified as polymorphic during the course of this study (see text). The position of the key recombination in individual IV-4 is indicated with a cross. The results for clinically unaffected females in generation IV are omitted, to avoid revealing their carrier status.