Pedigree and Haplotype Analysis of the XLCOD Family, Defining the Critical Interval as Xq26.1-qter
(A) Haplotypes for markers on Xp show that the disease does not segregate with known disease genes (RPGR, RP2, and CACNA1F).
(B) XLCOD segregates with markers on Xq26.1-qter. The affected haplotype is shaded black. Individuals II:4, II:6, and III:6 have a recombination between markers DXS1047 and DXS984, defining the proximal boundary of disease. No distal recombinations were identified; thus, the critical interval is defined as DXS1047-Xqter. The location of the LW/MW opsin array is indicated. Haplotypes are shown according to marker order on the X chromosome, as indicated in the key. Filled symbol, affected; empty symbol, unaffected; circles with dots, obligate carrier females; ?, affectation status unknown.