Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.
Choroideremia is a distinct blinding condition with an X-linked pattern of inheritance. We have analyzed two RFLPs, DXS3 and DXYS1, for linkage with the choroideremia locus (TCD) within three kindreds. A maximum LOD score of 3.98 was obtained at theta = 0.14 for TCD:DXS3. The summed maximum LOD score from this study and from previously published TCD:DXYS1 data is 5.23 at theta = 0.05. Contrary to previous reports, the present data demonstrate that these two RFLPs are not tightly linked to the choroideremia gene locus.
D002829:Choroid; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014603:Uveal Diseases / Q000235:genetics; D014960:X Chromosome
D005819:Genetic Markers