Refinement of the chromosomal position of the X linked juvenile retinoschisis gene

J Med Genet. 1994 Dec;31(12):972-5. doi: 10.1136/jmg.31.12.972.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Recombination, Genetic
  • Retinal Degeneration / genetics*
  • Vitreous Body*
  • X Chromosome*