Improved genetic mapping of X linked retinoschisis

N D George, S J Payne, R M Bill, D E Barton, A T Moore, J R Yates

Research output: Contribution to journalArticle

Abstract

X linked retinoschisis (RS) causes poor vision in affected males owing to radial cystic changes at the macula. Genetic linkage analysis was carried out in 16 British families with X linked retinoschisis using markers from the Xp22 region. Linkage was confirmed between the RS locus and the markers DXS207 (lod score, Zmax = 17.9 at recombination fraction theta = 0.03; confidence interval for theta = 0.007-0.09), DXS1053 (Zmax = 18.0 at theta = 0.01, CI = 0.001-0.06), DXS43 (Zmax = 12.9 at theta = 0.03, CI = 0.004-0.09), DXS1195 (Zmax = 6.4 at theta = 0.00), DXS418 (Zmax = 8.2 at theta = 0.00), DXS999 (Zmax = 21.2 at theta = 0.01, CI = 0.001-0.05), DXS443 (Zmax = 14.2 at theta = 0.03, CI = 0.004-0.09), DXS365 (Zmax = 24.5 at theta = 0.008, CI = 0.001-0.04). Key recombinants placed RS between DXS43 distally and DXS999 proximally. Multipoint linkage analysis gave odds of 344:1 in favour of this location for RS and supported the map Xpter-(DXS207, DXS1053)-DXS43-1 cM-RS-1 cM-DXS999-DXS443-DXS365-DXS1052-Xcen.
Original languageEnglish
Pages (from-to)919-22
Number of pages4
JournalJournal of Medical Genetics
Volume33
Issue number11
DOIs
Publication statusPublished - Nov 1996

Keywords

  • Chromosome Mapping
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Great Britain
  • Humans
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Recombination, Genetic
  • Retinal Degeneration
  • X Chromosome

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  • Cite this

    George, N. D., Payne, S. J., Bill, R. M., Barton, D. E., Moore, A. T., & Yates, J. R. (1996). Improved genetic mapping of X linked retinoschisis. Journal of Medical Genetics, 33(11), 919-22. https://doi.org/10.1136/jmg.33.11.919