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  • Title: Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
    Author: Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI.
    Journal: Invest Ophthalmol Vis Sci; 1998 Aug; 39(9):1736-9. PubMed ID: 9699564.
    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.
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