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Research Article
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
  1. A A Bergen,
  2. J B ten Brink,
  3. L M Bleeker-Wagemakers,
  4. M J van Schooneveld
  1. The Netherlands Ophthalmic Research Institute, Amsterdam.

    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.

    https://doi.org/10.1136/jmg.31.12.972

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