A progressive early onset cataract gene maps to human chromosome 17q24

摘要: Cerulean cataract is an autosomal dominant, early onset, progressive characterized by blue or white opacifications in the nucleus and cortex of lens. A large four–generation pedigree which cerulean segregates was studied for linkage analysis. genome wide search undertaken after plausible candidate genes were excluded phenotype mapped to chromosome 17q24. The three markers closest disease gene are D17S802 (Z(θ)=9.46 at (θ)=0.085), D17S836 (Z(θ)=5.26 (θ)=0.031) AFMa238yb5 (Z(θ)=7.11 (θ)=0.032). Multipoint analyses yielded a maximum lod score Z(θ)=13.71, placing between (θ)=0.048 (θ)=0.013, respectively.