title: Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
abstract: Linkage analysis was carried out in seven X linked juvenile retinoschisis (XLRS) families using four DNA probes and four CA repeat polymorphisms from the Xp22 region. Close linkage was observed between the XLRS locus and DXS207 (theta max = 0.04, Zmax = 3.71), DXS999 (theta max = 0.00, Zmax = 4.59), DXS365 (theta max = 0.07, Zmax = 2.22), and DXS451 (theta max = 0.05, Zmax = 3.26). The analysis of recombination breakpoints and multipoint linkage analysis suggests the order Xpter-DXS16-(DXS43, DXS207)-RS-DXS365-(DXS451, DXS41)-Xcen, thereby refining the position of the XLRS locus to an interval of approximately 3-4 cM. These results improve the feasibility of diagnosis in XLRS considerably, since carriers of this disease cannot be identified clinically.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: J B
authors.initials: JB
authors.lastname: ten Brink
authors.forename: L M
authors.initials: LM
authors.lastname: Bleeker-Wagemakers
authors.forename: M J
authors.initials: MJ
authors.lastname: van Schooneveld
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D012162:Retinal Degeneration / Q000235:genetics*; D014822:Vitreous Body; D014960:X Chromosome