August 1998
Volume 39, Issue 9
Free
Articles  |   August 1998
Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
Author Affiliations
  • I R Rodriguez
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • K Mazuruk
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • C Jaworski
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • F Iwata
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • E F Moreira
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • M I Kaiser-Kupfer
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Investigative Ophthalmology & Visual Science August 1998, Vol.39, 1736-1739. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      I R Rodriguez, K Mazuruk, C Jaworski, F Iwata, E F Moreira, M I Kaiser-Kupfer; Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.. Invest. Ophthalmol. Vis. Sci. 1998;39(9):1736-1739.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

PURPOSE: To determine whether two families diagnosed with X-linked retinoschisis contained mutations in the XLRS1 gene. METHODS: DNA from the patients was obtained from blood lymphocytes using commercially available kits. Single-strand conformation assay was performed in an electrophoresis apparatus using 10% acrylamide TBE gels at 10 degrees C. The gels were stained with SYB green II and were scanned in a phosphoimager. DNA was sequenced using an automated fluorescence sequencer. RESULTS: A deletion that eliminates exon 2 was found in one family. An abnormal sequence replacement in exon 4 was found in the other family. Both mutations have severe effects in the coding region by inserting premature stop codons. CONCLUSIONS: Both of the families have mutations in the XLRS1 gene. One of these mutations points to a novel mechanism. The mutation is caused by a replacement of 17 bp of a normal sequence with 20 bp of a sequence originating from two different places in the antisense strand. This suggests that early Okazaki fragments were incorporated into the sense strand of exon 4, replacing the normal sequence.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×